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1.
BMJ Case Rep ; 17(7)2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38969392

RESUMEN

Sotos syndrome is a disorder characterised by distinctive facial features, excessive growth during childhood and intellectual disability. While these criteria apply to children and adults, they fall short when applied to neonates. Hyperbilirubinaemia, large for gestational age, hypotonia and seizures, along with cardiac and renal anomalies, are known to be common presentations in neonates. Reports have also added hyperinsulinaemic hypoglycaemia as a presenting feature of Sotos syndrome in neonates. Here, we report a case of Sotos syndrome in a neonate who presented in the neonatal period with recurrent apnoeic episodes with hypotonia, which were later attributed to severe gastro-oesophageal reflux.


Asunto(s)
Reflujo Gastroesofágico , Síndrome de Sotos , Humanos , Reflujo Gastroesofágico/diagnóstico , Reflujo Gastroesofágico/complicaciones , Recién Nacido , Síndrome de Sotos/diagnóstico , Síndrome de Sotos/complicaciones , Masculino , Femenino , Hipotonía Muscular/etiología , Hipotonía Muscular/diagnóstico
2.
BMJ Case Rep ; 17(2)2024 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-38383127

RESUMEN

An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.


Asunto(s)
Diarrea Infantil , Facies , Enfermedades del Cabello , Lactante , Femenino , Humanos , Retardo del Crecimiento Fetal/genética , Diarrea/diagnóstico , Diarrea Infantil/diagnóstico , Diarrea Infantil/terapia , Diarrea Infantil/genética , Enfermedades del Cabello/genética
5.
BMJ Case Rep ; 16(11)2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-37945278

RESUMEN

In this case report, we present a late preterm growth-restricted neonate who developed signs of feeding intolerance on the second day of life, which progressed to frank peritonitis with perforation by the end of the second week of life. As necrotising enterocolitis was considered the most likely diagnosis, a glove drain was placed in the flanks. The neonate did not improve, and surgical exploration was done after medical stabilisation. On exploration, the neonate was found to have appendicular perforation and an appendicectomy was performed. During surgery, the rest of the gut was noted to be healthy. Histopathological examination of the appendix showed transmural inflammation, focal infarction and perforation. The postoperative period was uneventful, and the neonate showed rapid improvement and reached full enteral feeding in the next 5 days. Antibiotic therapy promptly resolved bacterial peritonitis, and the neonate was discharged successfully.


Asunto(s)
Apendicitis , Apéndice , Enterocolitis Necrotizante , Enfermedades Fetales , Enfermedades del Recién Nacido , Peritonitis , Femenino , Humanos , Recién Nacido , Apendicitis/complicaciones , Apendicitis/diagnóstico , Apendicitis/cirugía , Apéndice/patología , Enterocolitis Necrotizante/complicaciones , Enterocolitis Necrotizante/diagnóstico , Enterocolitis Necrotizante/cirugía , Enfermedades del Recién Nacido/diagnóstico , Peritonitis/etiología , Peritonitis/complicaciones , Adulto
6.
World Neurosurg ; 155: e34-e40, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34325030

RESUMEN

BACKGROUND: As the COVID-19 pandemic surpasses 1 year, it is prudent to reflect on the challenges faced and the management strategies employed to tackle this overwhelming health care crisis. We undertook this study to validate our institutional protocols, which were formulated to cater to the change in volume and pattern of neurosurgical cases during the raging pandemic. METHODS: All admitted patients scheduled to undergo major neurosurgical intervention during the lockdown period (15 March 2020 to 15 September 2020) were included in the study. The data involving surgery outcomes, disease pattern, anesthesia techniques, patient demographics, as well as COVID-19 status, were analyzed and compared with similar retrospective data of neurosurgical patients operated during the same time period in the previous year (15 March 2019 to 15 September 2019). RESULTS: Barring significant increase in surgery for stroke (P = 0.008) and hydrocephalus (P <0.001), the overall case load of neurosurgery during the study period in 2020 was 42.75% of that in 2019 (P < 0.001), attributable to a significant reduction in elective spine surgeries (P < 0.001). However, no significant difference was observed in the overall incidence of emergency and essential surgeries undertaken during the 2 time periods (P = 0.482). There was an increased incidence in the use of monitored anesthesia care techniques during emergency and essential neurosurgical procedures by the anesthesia team in 2020 (P < 0.001). COVID-19 patients had overall poor outcomes (P = 0.003), with significant increase in mortality among those subjected to general anesthesia vis-a-vis monitored anesthesia care (P = 0.014). CONCLUSIONS: Despite a significant decrease in neurosurgical workload during the COVID-19 lockdown period in 2020, the volume of emergency and essential surgeries did not change much compared with the previous year. Surgery in COVID-19 patients is best avoided, unless critical, as the outcome in these patients is not favorable. The employment of monitored anesthesia care techniques like awake craniotomy and regional anesthesia facilitate a better outcome in the ongoing COVID-19 era.


Asunto(s)
COVID-19/diagnóstico , COVID-19/epidemiología , Control de Enfermedades Transmisibles/tendencias , Recursos en Salud/tendencias , Procedimientos Neuroquirúrgicos/tendencias , Centros de Atención Terciaria/tendencias , COVID-19/prevención & control , Prueba de COVID-19/métodos , Prueba de COVID-19/tendencias , Protocolos Clínicos , Control de Enfermedades Transmisibles/métodos , Femenino , Humanos , India/epidemiología , Masculino , Procedimientos Neuroquirúrgicos/métodos , Estudios Retrospectivos , Resultado del Tratamiento
7.
Indian Pediatr ; 54(3): 208-210, 2017 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-27889715

RESUMEN

OBJECTIVE: To study whether using infant manikins during clinical posting could help in teaching newborn examination to undergraduate medical students. METHODS: 111 final MBBS students were taught newborn examination either by the new method which included practice on infant manikins at the bedside before examining babies (Group 1) or by the traditional method which involved directly examining babies (Group 2). They were tested the next day by validated OSCE stations on important aspects of the newborn examination. Marking was done as 0 (completely incorrect), 1 (partially correct) or 2 (completely correct). Student feedback was also taken. RESULTS: Scores were higher, with lesser variance, in Group 1. Student feedback was positive, favoring the new method. CONCLUSION: Use of infant manikins at the bedside during clinical posting improves the performance of undergraduate students in newborn examination.


Asunto(s)
Educación de Pregrado en Medicina/métodos , Maniquíes , Neonatología/educación , Examen Físico , Competencia Clínica , Humanos , Estudios Prospectivos
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