We report a rare case of two young male siblings with sickle cell anemia who presented with bilateral lower limb deformities, failure to thrive, polyuria, and polydipsia. On investigations, they were found to have normal anion gap metabolic acidosis, hypokalemia, and nephrocalcinosis were seen on ultrasonography of the kidneys. These reports were suggestive of distal renal tubular acidosis (dRTA). They were started on oral alkali replacement and potassium therapy with which clinical improvement was seen. Conventionally, renal tubular dysfunction is thought to occur infrequently in patients with sickle cell anemia. Hence, we report this rare association between sickle cell anemia and dRTA.
Background: The Bardet–Biedl syndrome (BBS) is a rare ciliopathic Autosomal Recessive disorder, with features like central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism and renal failure. Less than 15 cases have been reported from India. There is no disease-specific treatment, but management of its manifestations and prevention of its complications are most important to prevent morbidity and mortality. Case Presentation: A 9-year female presented to Endocrinology Out patient department with obesity, polydactyly, ataxia and visual complaints. On examination, she also had hypogonadism, acanthosis nigricans, retinitis pigmentosa and crowding of teeth. A diagnosis of BBS was made based on Beales et al criteria (attached in the table form) and associated features of the condition were screened for which also revealed hypertriglyceridemia. She was advised dietary modifications and genetic counselling was offered to the family. She was also advised regular follow up for screening of complications. Conclusions: BBS is a rare clinical condition often unnoticed by clinicians. Renal failure is the leading cause of morbidity and mortality in these patients and regular follow up for early detection is vital to halt its progression. The combined presence of postaxial polydactyly, blindness, learning disabilities, renal malformations, and obesity in a patient should alert to the possibility of BBS
Background: One of the most frequent illnesses in the rst 48 to 72 hours of neonatal life is respiratory distress. The most frequent reason for NICU hospitalization and the leading cause of morbidity in newborn is respiratory distress. The present study is aimed to determine and correlate the incidence, risk factors, causes and outcomes of respiratory distress in neonates in a neonatal intensive care unit of a tertiary care facility. Impressive outcomes are achieved when neonatal respiratory illness is diagnosed early and managed with appropriate interventions. Material & Methods: A prospective observational study was conducted for a period of 18 months in the inborn & outborn NICU of Department of Pediatrics, Index Medical College Hospital & Research Centre, Indore after valid approval from Institutional ethics committee on. 100 babies who presented with respiratory distress irrespective of their status at time of delivery (preterm, term or post term) and qualied the inclusion criteria were enrolled after taking written informed consent from the parents/caretakers. Following the admission of the newborn, data were recorded in the predesigned proforma. Statistical analysis was done with P value <0.05 signicant. Out Results: of 100 babies included in the study, 62 were males while 38 were females. Pulmonary cause was the most frequent cause of respiratory distress in newborn out of which TTNB (33%) was the commonest followed by RDS (20%). Prematurity (37%), MSAF (18%), Caesarean section against precipitous labour (9.5%), obstruction/non progression of labour (8%) were the major risk factors to develop. 58% of babies were born via LSCS with MSAF (24.1%), previous Caesarean section (20.7%) and obstructed labour (13.8%) as the main indications. Under treatment intervention,62 (62%) babies required only Oxygen while 20 babies (20%) required CPAP and 18 babies (18%) required mechanical ventilation. Morbidity was seen in 34% of newborns with RD which included sepsis, ROP, IVH, HIE, BPD. Out of 20 deaths,14 babies (70%) were males, and 6 babies (30%) were females. In Conclusion: cidence of respiratory distress was 9.8% among live births. Transient tachypnea of the newborn is the most common cause of respiratory distress in newborn. Antenatal risk factors increase the incidence of RD. Risk factors like Prematurity, meconium-stained liquor, cesarean delivered newborns, obstructed labour, Oligo/polyhydramnios, foetal distress, PROM was associated with respiratory distress in newborns. Prematurity is the most common and most important risk factor for the development of RD in newborn. There was male predominance & most of the babies were delivered via caesarean section. Frequency and severity of RD is inversely related to gestational age and birth weight. Early term and preterm babies constituted majority of the babies with respiratory distress. Most of the babies had mild to moderate respiratory distress with Downe's score between 2-6. RDS was the most common cause for CPAP and ventilation. The mortality rate was 20% among the respiratory distress cases admitted in NICU, rest 80% survived. The most common cause of death was RDS. Early diagnosis and identication of causes of respiratory distress in neonate is critical in the management. The neonatal outcome will improve with efforts made to prevent preterm birth, identify various maternal risk factors and intervene early with appropriate interventions.
Background: Infections in early neonatal period are one of the important factors responsible for high mortality and morbidity in neonates in developing countries. Although it is being frequently observed by pediatricians in neonates, still insufficient relevant studies are documented. The objective of the present study was to evaluate the utility of gastric aspirate cytology as a screening tool for neonatal sepsis, and to determine the polymorphonuclear leukocyte count present in smear of gastric aspirate and correlating it with blood culture proven sepsis. Methods: The study was conducted on 100 neonates suspected with septicemia in inborn patients in Index medical college hospital and research centre. Gastric aspirate sample was collected within 6 hours of birth for septic screening of neonates. All the collected data was statistically analysed by applying Chi-square test using SPSS 2.0 software. Results: Gastric aspirate cytology has sensitivity 0f 53.19% and specificity of 62.28% with positive predictive accuracy of 51.33% and negative predictive accuracy of 63.4%.The relationship between gastric aspirate cytology and maternal risk factors like PROM are found to be highly significant. Conclusions: We conclude that gastric aspirate cytology in neonates is an excellent screening technique for neonatal sepsis added to a detailed perinatal history and clinical examination. The chances of positivity of gastric aspirate increase as the duration of rupture of membranes increased. Keywords: Gastric aspirate cytology, Neonatal sepsis, Blood culture, Polymorphonuclear leukocytes.
The study has been conducted in the neonatal unit of IMCHRC Indore Madhya Pradesh. This is a tertiary care teaching hospital. Overall most common etiology of neonatal seizures in our study was sepsis (64.9%), followed by birth asphyxia 48.3% cases, hypoglycemia (25%) & hypocalcaemia (21.6%) Birth asphyxia is the most common cause of subtle seizures and sepsis led to tonic seizures. The most common aetiology for neonatal seizures is sepsis. This is because the study was conducted in a Medical college placed in rural area, in which patients are coming from villages and rural background, where concept of hygiene is poor, so source of infection was higher. Patients of Birth Asphyxia are less, since our hospital is of tertiary care level where inborn patients are given good perinatal care. Due to lack of knowledge & awareness of infant feeding we got cases of hypoglycaemia& electrolyte imbalance. Onset of seizures during first 3 days of life has significant correlation with HIE as aetiology. Most of the newborn are term & male preponderance was found. Subtle seizures are commonest type of clinical seizures, which were difficult to identify, therefore careful observation of at risk newborns is necessary. Keywords: Clinical, Seizures, Neonates & Etiology.
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