Aim of the study: To emphasise the importance of meticulous history taking and physical examination as well as to raise the awareness of various possibilities in the diagnosis and management of retropharyngeal abscesses in children. Case study: Retropharyngeal abscess commonly occurs in children under 4 years of age following upper respiratory tract infection or ear infection. Commonly, the presentation includes fever, odynophagia, and airway obstruction. The features may mimic epiglottitis and meningitis, which can delay appropriate treatment. We describe a case of a 4-year old boy who presented with fever, neck swelling, dysphagia, and torticollis. He was initially referred for a peritonsillar abscess. Computed tomography of the neck showed a collection in the retropharyngeal space. The child underwent incision and drainage, completed a 2-week course of antibiotics, and completely recovered. Conclusion: We highlight the importance of early diagnosis and prompt management of the condition to avoid life-threatening complications.
{"title":"Acute retropharyngeal abscess mimicking a peritonsillar abscess in a child: a diagnostic challenge","authors":"J. Saniasiaya, I. Mohamad, S. Nadarajah","doi":"10.15557/pimr.2022.0060","DOIUrl":"https://doi.org/10.15557/pimr.2022.0060","url":null,"abstract":"Aim of the study: To emphasise the importance of meticulous history taking and physical examination as well as to raise the awareness of various possibilities in the diagnosis and management of retropharyngeal abscesses in children. Case study: Retropharyngeal abscess commonly occurs in children under 4 years of age following upper respiratory tract infection or ear infection. Commonly, the presentation includes fever, odynophagia, and airway obstruction. The features may mimic epiglottitis and meningitis, which can delay appropriate treatment. We describe a case of a 4-year old boy who presented with fever, neck swelling, dysphagia, and torticollis. He was initially referred for a peritonsillar abscess. Computed tomography of the neck showed a collection in the retropharyngeal space. The child underwent incision and drainage, completed a 2-week course of antibiotics, and completely recovered. Conclusion: We highlight the importance of early diagnosis and prompt management of the condition to avoid life-threatening complications.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42884875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bone fractures in children and adolescents are primarily an orthopaedic problem; however, frequent fractures or multiple fractures at a time require a more extensive diagnostic investigation performed by a paediatrician, endocrinologist and even a geneticist. It is estimated that one in three children aged up to 17 years will experience a bone fracture. The frequency of fractures rises with age, peaking at 11–14 years. The majority of fractures happen as a result of trauma; however, some of them are a sign of genetic diseases (osteogenesis imperfecta, osteopetrosis) or mineral imbalance (metabolic bone disease of prematurity, rickets, osteoporosis). Bone fractures in small children require particular attention, since they may be a sign of not only systemic disorders, but also of battered child syndrome. Not only fractures of long bones, but also fractures of the vertebrae are an underappreciated problem in young patients. They may be spontaneous or associated with inflammatory, autoimmune or neoplastic diseases. Glucocorticoids that are used to treat these diseases are considered to be the main risk factor for the development of steroid-related osteoporosis, regardless of the patient’s age. Due to the diverse aetiology of bone fractures in children and adolescents, the cooperation of multiple specialists in the diagnostic investigation of calcium and phosphate imbalance and disorders of bone mineralisation is important.
{"title":"Bone fractures in children and adolescents: a frequent problem with a diverse aetiology","authors":"E. Jakubowska-Pietkiewicz","doi":"10.15557/pimr.2022.0048","DOIUrl":"https://doi.org/10.15557/pimr.2022.0048","url":null,"abstract":"Bone fractures in children and adolescents are primarily an orthopaedic problem; however, frequent fractures or multiple fractures at a time require a more extensive diagnostic investigation performed by a paediatrician, endocrinologist and even a geneticist. It is estimated that one in three children aged up to 17 years will experience a bone fracture. The frequency of fractures rises with age, peaking at 11–14 years. The majority of fractures happen as a result of trauma; however, some of them are a sign of genetic diseases (osteogenesis imperfecta, osteopetrosis) or mineral imbalance (metabolic bone disease of prematurity, rickets, osteoporosis). Bone fractures in small children require particular attention, since they may be a sign of not only systemic disorders, but also of battered child syndrome. Not only fractures of long bones, but also fractures of the vertebrae are an underappreciated problem in young patients. They may be spontaneous or associated with inflammatory, autoimmune or neoplastic diseases. Glucocorticoids that are used to treat these diseases are considered to be the main risk factor for the development of steroid-related osteoporosis, regardless of the patient’s age. Due to the diverse aetiology of bone fractures in children and adolescents, the cooperation of multiple specialists in the diagnostic investigation of calcium and phosphate imbalance and disorders of bone mineralisation is important.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49511411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Tomaszewska, Karolina Piotrowska-Lis, A. Rustecka, B. Kalicki
Recurrent fever syndromes are autoinflammatory diseases. In their pathogenesis, no autoantibodies or autoreactive T-lymphocytes are found. Innate immunity and adaptive immunity are of great importance in this case. In the mid-latitudes, the most common syndrome is periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), which mainly affects children under 5 years of age. Fevers occur cyclically, on average every 26–36 days. Characteristic features of PFAPA include the absence of any symptoms between fever episodes and undisturbed growth and development of the child. In laboratory tests, during a fever episode, elevated white blood cell count and an increase in inflammatory markers are observed. The recommended treatment is the use of glucocorticoids. In some cases, the use of colchicine or even an interleukin-1 receptor antagonist (anakinra) may be considered. The aim of this paper is to present the case of a 3.5-year-old boy hospitalised in the Department of Paediatrics, Nephrology and Paediatric Allergology of the Military Institute of Medicine due to recurrent episodes of fever with enlarged lymph nodes, occurring at regular intervals, as well as to draw attention to the difficulties encountered during the diagnosis of recurrent febrile episodes.
{"title":"Diagnostic and therapeutic difficulties in PFAPA: a case report","authors":"A. Tomaszewska, Karolina Piotrowska-Lis, A. Rustecka, B. Kalicki","doi":"10.15557/pimr.2022.0056","DOIUrl":"https://doi.org/10.15557/pimr.2022.0056","url":null,"abstract":"Recurrent fever syndromes are autoinflammatory diseases. In their pathogenesis, no autoantibodies or autoreactive T-lymphocytes are found. Innate immunity and adaptive immunity are of great importance in this case. In the mid-latitudes, the most common syndrome is periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), which mainly affects children under 5 years of age. Fevers occur cyclically, on average every 26–36 days. Characteristic features of PFAPA include the absence of any symptoms between fever episodes and undisturbed growth and development of the child. In laboratory tests, during a fever episode, elevated white blood cell count and an increase in inflammatory markers are observed. The recommended treatment is the use of glucocorticoids. In some cases, the use of colchicine or even an interleukin-1 receptor antagonist (anakinra) may be considered. The aim of this paper is to present the case of a 3.5-year-old boy hospitalised in the Department of Paediatrics, Nephrology and Paediatric Allergology of the Military Institute of Medicine due to recurrent episodes of fever with enlarged lymph nodes, occurring at regular intervals, as well as to draw attention to the difficulties encountered during the diagnosis of recurrent febrile episodes.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47257730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Podgórski, Dominika Wrzesień, A. Koziarski, G. Zieliński
Aim: The aim of this study was to evaluate the efficacy of awake brain surgery for benign glial brain tumours in the Department of Neurosurgery of the Military Institute of Medicine in Warsaw. Materials and methods: Between 2020 and 2021, 9 out of 17 patients with a radiological diagnosis of a low-grade glioma located within or in the vicinity of eloquent brain areas were operated on under awake conditions. The average preoperative tumour volume was 29.6 cm3. Preoperative management included a repeat magnetic resonance imaging supplemented with functional magnetic resonance imaging and tractography, as well as neuropsychological assessment. The cortex and subcortical structures were stimulated intraoperatively at 1.5–4 mA. The intraoperative assessment covered: motor functions, speech, and, additionally in two patients, visual field width and contralateral neglect. Results: Based on magnetic resonance imaging on the first postoperative day, complete removal of the tumour was confirmed in 7 patients. In 2 patients, resection was subtotal due to the fact that part of the tumour that infiltrated eloquent structures was left. In 6 patients, transient neurological deterioration was observed in the early perioperative period, which resolved within 2 months after surgery. In 3 patients, histopathological examination revealed a tumour with a higher grade of malignancy than expected. Conclusions: Our experience confirms that surgical treatment of benign glial tumours using direct electrical stimulation in awake patients is an effective and safe method allowing effective tumour resection with a minimised risk of adverse neurological sequelae.
{"title":"Awake craniotomy for low-grade gliomas","authors":"A. Podgórski, Dominika Wrzesień, A. Koziarski, G. Zieliński","doi":"10.15557/pimr.2022.0053","DOIUrl":"https://doi.org/10.15557/pimr.2022.0053","url":null,"abstract":"Aim: The aim of this study was to evaluate the efficacy of awake brain surgery for benign glial brain tumours in the Department of Neurosurgery of the Military Institute of Medicine in Warsaw. Materials and methods: Between 2020 and 2021, 9 out of 17 patients with a radiological diagnosis of a low-grade glioma located within or in the vicinity of eloquent brain areas were operated on under awake conditions. The average preoperative tumour volume was 29.6 cm3. Preoperative management included a repeat magnetic resonance imaging supplemented with functional magnetic resonance imaging and tractography, as well as neuropsychological assessment. The cortex and subcortical structures were stimulated intraoperatively at 1.5–4 mA. The intraoperative assessment covered: motor functions, speech, and, additionally in two patients, visual field width and contralateral neglect. Results: Based on magnetic resonance imaging on the first postoperative day, complete removal of the tumour was confirmed in 7 patients. In 2 patients, resection was subtotal due to the fact that part of the tumour that infiltrated eloquent structures was left. In 6 patients, transient neurological deterioration was observed in the early perioperative period, which resolved within 2 months after surgery. In 3 patients, histopathological examination revealed a tumour with a higher grade of malignancy than expected. Conclusions: Our experience confirms that surgical treatment of benign glial tumours using direct electrical stimulation in awake patients is an effective and safe method allowing effective tumour resection with a minimised risk of adverse neurological sequelae.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42632282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Schneiderian papilloma is a benign sinonasal tumour, which has three morphological variants: fungiform, inverted and oncocytic. Inverted papilloma, being the most prevalent variant, is three times more common among males in their fifth to seventh decade of life. On the other hand, nasopharyngeal carcinoma is a malignant tumour arising from the nasopharyngeal epithelium. Albeit rare, synchronous sinonasal tumour has been reported and remains a quandary till date, especially when it involves malignant and benign synchronous nasal mass. In this paper, we reported a case of a successfully treated synchronous sinonasal inverted papilloma with nasopharyngeal carcinoma in an elderly male. We would like to highlight the need to investigate suspicious bilateral nasal masses due to the possible coexistence of two different pathologies, as in our case.
{"title":"Synchronous sinonasal tumour: double trouble?","authors":"K. Ponnuvelu, J. Saniasiaya, N. Abdul Gani","doi":"10.15557/pimr.2022.0041","DOIUrl":"https://doi.org/10.15557/pimr.2022.0041","url":null,"abstract":"Schneiderian papilloma is a benign sinonasal tumour, which has three morphological variants: fungiform, inverted and oncocytic. Inverted papilloma, being the most prevalent variant, is three times more common among males in their fifth to seventh decade of life. On the other hand, nasopharyngeal carcinoma is a malignant tumour arising from the nasopharyngeal epithelium. Albeit rare, synchronous sinonasal tumour has been reported and remains a quandary till date, especially when it involves malignant and benign synchronous nasal mass. In this paper, we reported a case of a successfully treated synchronous sinonasal inverted papilloma with nasopharyngeal carcinoma in an elderly male. We would like to highlight the need to investigate suspicious bilateral nasal masses due to the possible coexistence of two different pathologies, as in our case.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":"1 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41477707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Izzah Akashah, J. Saniasiaya, N. Prepageran, Carren Su-Lin Teh
Aim: The aim of the study was to outline the longitudinal outcomes of olfactory dysfunction amongst patients with coronavirus disease 2019 (COVID-19) in a single tertiary centre in Malaysia. Materials and methods: Adults patients who tested positive for COVID-19 via reverse transcription-polymerase chain reaction and were admitted to Hospital Sungai Buloh, Malaysia, were recruited in this study. The patients completed a questionnaire via telephone interview comprising the following details: age, sex, ethnicity, comorbidities, general and otorhinolaryngological symptoms, and onset and duration of olfactory and gustatory dysfunction. The patients with persistent olfactory and gustatory dysfunction at the time of the initial interview were followed up every 3 to 5 days until resolution. Results: A total 185 patients were included in this study out of 378 patients contacted. Ninety patients reported olfactory dysfunction symptoms, with 59 of them complaining of anosmia. The mean age of the participants was 39.52 years (age range: 18–66 years). More than half of the patients with olfactory dysfunction had no comorbidities (55.56%). Of the 90 patients with olfactory dysfunction, 66 patients (73.3%), including 40 males and 26 females, regained their olfactory function completely within 2 weeks. The remaining 24 patients were contacted after 4, 8, and 12 weeks. Ten patients (11.1%) were found to have recovered their sense of smell after one month, while 5 patients (5.56%) recovered within 2 months, and 1 patient (1.11%) recovered in 3 months. Conclusion: Complete recovery was noted in 73% of the patients within a period of 2 weeks, whereas persistence of symptoms was noted in 6 patients (6.67%) after 3 months.
{"title":"Longitudinal study of olfactory dysfunction among COVID-19 patients in a single tertiary centre in Malaysia","authors":"Izzah Akashah, J. Saniasiaya, N. Prepageran, Carren Su-Lin Teh","doi":"10.15557/pimr.2022.0036","DOIUrl":"https://doi.org/10.15557/pimr.2022.0036","url":null,"abstract":"Aim: The aim of the study was to outline the longitudinal outcomes of olfactory dysfunction amongst patients with coronavirus disease 2019 (COVID-19) in a single tertiary centre in Malaysia. Materials and methods: Adults patients who tested positive for COVID-19 via reverse transcription-polymerase chain reaction and were admitted to Hospital Sungai Buloh, Malaysia, were recruited in this study. The patients completed a questionnaire via telephone interview comprising the following details: age, sex, ethnicity, comorbidities, general and otorhinolaryngological symptoms, and onset and duration of olfactory and gustatory dysfunction. The patients with persistent olfactory and gustatory dysfunction at the time of the initial interview were followed up every 3 to 5 days until resolution. Results: A total 185 patients were included in this study out of 378 patients contacted. Ninety patients reported olfactory dysfunction symptoms, with 59 of them complaining of anosmia. The mean age of the participants was 39.52 years (age range: 18–66 years). More than half of the patients with olfactory dysfunction had no comorbidities (55.56%). Of the 90 patients with olfactory dysfunction, 66 patients (73.3%), including 40 males and 26 females, regained their olfactory function completely within 2 weeks. The remaining 24 patients were contacted after 4, 8, and 12 weeks. Ten patients (11.1%) were found to have recovered their sense of smell after one month, while 5 patients (5.56%) recovered within 2 months, and 1 patient (1.11%) recovered in 3 months. Conclusion: Complete recovery was noted in 73% of the patients within a period of 2 weeks, whereas persistence of symptoms was noted in 6 patients (6.67%) after 3 months.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42805595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Muhammad Harith Mohamed Rouse, Che Yusfarina Che Yusop, Rian Asmeida Farha Ahmad Rejab, I. Mohamad
Peritonsillar abscess refers to the collection of pus in between the tonsillar capsule and the superior constrictor muscle. The majority of patients with peritonsillar abscess recover uneventfully after intraoral drainage and antibiotic therapy. However, some patients who are immunosuppressed might deteriorate as infection spreads into the deep neck spaces or upper airway mucosa. We report a case of 48-year-old immunocompetent patient with peritonsillar abscess extending primarily into the parapharyngeal and retropharyngeal spaces, followed by unusual secondary extension into the masticator space, the submandibular region, and the anterior neck region. Both intraoral and extraoral incisions were conducted. The patient fully recovered after the drainage procedure and antibiotic treatment.
{"title":"Uncommon extension of peritonsillar abscess","authors":"Muhammad Harith Mohamed Rouse, Che Yusfarina Che Yusop, Rian Asmeida Farha Ahmad Rejab, I. Mohamad","doi":"10.15557/pimr.2022.0043","DOIUrl":"https://doi.org/10.15557/pimr.2022.0043","url":null,"abstract":"Peritonsillar abscess refers to the collection of pus in between the tonsillar capsule and the superior constrictor muscle. The majority of patients with peritonsillar abscess recover uneventfully after intraoral drainage and antibiotic therapy. However, some patients who are immunosuppressed might deteriorate as infection spreads into the deep neck spaces or upper airway mucosa. We report a case of 48-year-old immunocompetent patient with peritonsillar abscess extending primarily into the parapharyngeal and retropharyngeal spaces, followed by unusual secondary extension into the masticator space, the submandibular region, and the anterior neck region. Both intraoral and extraoral incisions were conducted. The patient fully recovered after the drainage procedure and antibiotic treatment.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45214682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H. Szymanik-Grzelak, Joanna Groszek, Katarzyna Gutowska-Malina, M. Pańczyk-Tomaszewska
Normal sodium levels in the extracellular fluid are in the range of 135–145 mmol/L. Low serum sodium (hyponatraemia) is a common water and electrolyte balance disorder. Dehydration and overhydration are the most common causes of hyponatraemia in children. This paper describes a case of a 2.5-year-old boy admitted to the paediatric ward due to pneumonia. The child showed reluctance to fluid intake, hypoosmolar hyponatraemia with hypouricaemia, and increased urinary sodium excretion in the absence of abnormalities in hydration status. He had a family history of persistent hyponatraemia and hypertension in his grandfather. After excluding pituitary, thyroid, adrenal cortex pathologies, kidney disfunction, and proliferative processes in the differential diagnosis, cerebral salt wasting syndrome, the syndrome of inappropriate secretion of antidiuretic hormone and the renal-related syndrome of inappropriate antidiuresis were taken into account. The aim of the study was to discuss the differential diagnosis of chronic euvolemic hyponatraemia and to draw attention to the need for genetic testing for the nephrogenic syndrome of inappropriate antidiuretic hormone secretion caused by activating point mutations of the vasopressin 2 receptor gene (V2R).
{"title":"Hyponatraemia – diagnostic difficulties in 2.5-year-old boy with nephrogenic syndrome of inappropriate antidiuresis. Case report","authors":"H. Szymanik-Grzelak, Joanna Groszek, Katarzyna Gutowska-Malina, M. Pańczyk-Tomaszewska","doi":"10.15557/pimr.2022.0045","DOIUrl":"https://doi.org/10.15557/pimr.2022.0045","url":null,"abstract":"Normal sodium levels in the extracellular fluid are in the range of 135–145 mmol/L. Low serum sodium (hyponatraemia) is a common water and electrolyte balance disorder. Dehydration and overhydration are the most common causes of hyponatraemia in children. This paper describes a case of a 2.5-year-old boy admitted to the paediatric ward due to pneumonia. The child showed reluctance to fluid intake, hypoosmolar hyponatraemia with hypouricaemia, and increased urinary sodium excretion in the absence of abnormalities in hydration status. He had a family history of persistent hyponatraemia and hypertension in his grandfather. After excluding pituitary, thyroid, adrenal cortex pathologies, kidney disfunction, and proliferative processes in the differential diagnosis, cerebral salt wasting syndrome, the syndrome of inappropriate secretion of antidiuretic hormone and the renal-related syndrome of inappropriate antidiuresis were taken into account. The aim of the study was to discuss the differential diagnosis of chronic euvolemic hyponatraemia and to draw attention to the need for genetic testing for the nephrogenic syndrome of inappropriate antidiuretic hormone secretion caused by activating point mutations of the vasopressin 2 receptor gene (V2R).","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49607923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jolanta Witanowska, B. Jarecka, M. Bugdol, Alicja Affanasowicz, Daniel Ledwoń, M. Matyja, I. Doroniewicz, Joanna Wojcieszczyk-Bacia, A. Myśliwiec
Introduction: Neonatal jaundice is characterised by a yellow coloration of the skin, mucous membranes, and sclera of the eye resulting from the accumulation of bilirubin in the body. When produced in significant excess, bilirubin can accumulate in the central nervous system causing kernicterus (bilirubin encephalopathy). The diagnosis of jaundice based only on the visual assessment of the degree of yellowing of the skin or sclera and the urine output is not a reliable method. Even the assessment by experienced observers does not correlate with actual measurements of serum bilirubin levels. Therefore, a study was undertaken to determine whether other parameters could clarify the diagnosis of neonatal jaundice during the observation of an infant. The aim of this study was to analyse the effect of bilirubin levels on motor activity of the infants studied in terms of the quality of motor patterns assessed using the Prechtl method. Materials and methods: The research procedure was multistage and included a retrospective analysis of neonatal medical records, transcutaneous measurement of bilirubin levels, and analysis of neonatal activity performed based on video recordings. A qualitative assessment of neonatal spontaneous activity was performed using the Prechtl GMA method (general movement assessment). The research procedure consisted of two stages. The first stage involved selecting infants who had a good general health status. Based on these criteria, a total of 125 infants were included in the video recording. The second stage of study inclusion took place after video recording. Infants with short periods of wakefulness, prolonged crying, and lying on their side were excluded from further examinations. Ultimately, 52 infants were included in the study. All infants were subjected to the diagnostic method proposed by Prechtl to determine the effect of bilirubin levels on their motor activity. Conclusion: Bilirubin levels in the course of physiological jaundice did not affect the quality of motor repertoire in the group of infants studied. Therefore further research is needed.
{"title":"Effect of bilirubin levels in infants on spontaneous activity assessed by the Prechtl method","authors":"Jolanta Witanowska, B. Jarecka, M. Bugdol, Alicja Affanasowicz, Daniel Ledwoń, M. Matyja, I. Doroniewicz, Joanna Wojcieszczyk-Bacia, A. Myśliwiec","doi":"10.15557/pimr.2022.0038","DOIUrl":"https://doi.org/10.15557/pimr.2022.0038","url":null,"abstract":"Introduction: Neonatal jaundice is characterised by a yellow coloration of the skin, mucous membranes, and sclera of the eye resulting from the accumulation of bilirubin in the body. When produced in significant excess, bilirubin can accumulate in the central nervous system causing kernicterus (bilirubin encephalopathy). The diagnosis of jaundice based only on the visual assessment of the degree of yellowing of the skin or sclera and the urine output is not a reliable method. Even the assessment by experienced observers does not correlate with actual measurements of serum bilirubin levels. Therefore, a study was undertaken to determine whether other parameters could clarify the diagnosis of neonatal jaundice during the observation of an infant. The aim of this study was to analyse the effect of bilirubin levels on motor activity of the infants studied in terms of the quality of motor patterns assessed using the Prechtl method. Materials and methods: The research procedure was multistage and included a retrospective analysis of neonatal medical records, transcutaneous measurement of bilirubin levels, and analysis of neonatal activity performed based on video recordings. A qualitative assessment of neonatal spontaneous activity was performed using the Prechtl GMA method (general movement assessment). The research procedure consisted of two stages. The first stage involved selecting infants who had a good general health status. Based on these criteria, a total of 125 infants were included in the video recording. The second stage of study inclusion took place after video recording. Infants with short periods of wakefulness, prolonged crying, and lying on their side were excluded from further examinations. Ultimately, 52 infants were included in the study. All infants were subjected to the diagnostic method proposed by Prechtl to determine the effect of bilirubin levels on their motor activity. Conclusion: Bilirubin levels in the course of physiological jaundice did not affect the quality of motor repertoire in the group of infants studied. Therefore further research is needed.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44006946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Height and weight measurements are an important element of every child’s visit to the paediatrician’s or family doctor’s office. Short stature is defined as a height below the 3rd percentile for age and sex. It is important to identify children in the short stature group (3% of the population) whose short height is not due to familial factors and therefore requires treatment. Correct measurement of the child’s height followed by its plotting onto a sex- and age-appropriate percentile chart is the first step to identify the problem of short stature in a child. This should be followed by determining the target height and growth rate. Therefore, regular updating of child’s medical record book is of key importance. Diagnostic work-up is needed in children with height below the 3rd percentile or with height difference of more than 2 percentile channels compared to the mean parental height, as well as in children with excessively slow growth rate (indicated by progressive decrease of percentile height position).
{"title":"The problem of a child with short stature in the paediatrician’s and family doctor’s office","authors":"Ewa Gramatyka-Drążek, A. Mazur","doi":"10.15557/pimr.2022.0035","DOIUrl":"https://doi.org/10.15557/pimr.2022.0035","url":null,"abstract":"Height and weight measurements are an important element of every child’s visit to the paediatrician’s or family doctor’s office. Short stature is defined as a height below the 3rd percentile for age and sex. It is important to identify children in the short stature group (3% of the population) whose short height is not due to familial factors and therefore requires treatment. Correct measurement of the child’s height followed by its plotting onto a sex- and age-appropriate percentile chart is the first step to identify the problem of short stature in a child. This should be followed by determining the target height and growth rate. Therefore, regular updating of child’s medical record book is of key importance. Diagnostic work-up is needed in children with height below the 3rd percentile or with height difference of more than 2 percentile channels compared to the mean parental height, as well as in children with excessively slow growth rate (indicated by progressive decrease of percentile height position).","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47606563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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