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Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central & peripheral precocious puberty. Study Design: Cross-sectional study. Setting: Karachi's National Institute of Child Health's Paediatric & endocrinology Division. Period: December 2016 and 2021. Material & Methods: All patients with precocious puberty will be taken from files through non-probability convenience sampling method. Data was analyzed on SPSS version 22.0. Results: Total 65 patients were included. The mean age was 6+3.35years. Precocious puberty was classified as peripheral precocious puberty in 38 (58.4%), central precocious puberty in 20 (30.76%), premature thelarche in 5(7.69%) and premature1pubarche in 2 (3.07%). In the peripheral precocious1puberty group, CAH was found in 22(78.5%), out of which 2 patients were of rare mutation of CAH presenting with peripheral precocious puberty (DAX mutation and 11 B hydroxylase mutation, adenocarcinoma was observed in 2(7.14%) followed by Mu-cane-Albright syndrome was in 4(14.28%) and van wykgrumbach syndrome in 10 patients. Central precocious puberty was found in 20 patients hypothalamic harmartoma in 4(20%), craniopharyngioma 3(15%), hypothalamic astrocytoma 1(5.0%), genetically proven neurofibromatosis in 1(5.0%) patient and hydrocephalus 1(5.0%) and in 10(50%) patients no cause was found. Conclusion: The conclusion of the study that Peripheral precocious puberty was more common than central precocious puberty. The common cause of peripheral precocious puberty was CAH, while central precocious puberty was idiopathic. Children with central precocious puberty had greater height SDS, weight SDS, FSH, and LH levels compared to children who had peripheral precocious puberty. [ABSTRACT FROM AUTHOR]

Objective: To assess the frequency of ALK gene rearrangement among patients presenting with lung adenocarcinoma at tertiary care hospital of Karachi, Pakistan. Study Design: Prospective longitudinal study Place and Duration of Study: Department of Medical Oncology, Jinnah Postgraduate Medical College Karachi, Pakistan from May 2019 Mar 2020. Methodology: Total 185 patients with confirmed diagnosis of stage IV lung adenocarcinoma who were unresectable and metastatic of age 20-75 years of either gender were included in the study using non-probability consecutive sampling technique. Patients were subjected for ALK mutation analysis using fluorescent in situ hybridization technique. Results: Out of 185 patients, the ALK rearrangements were found positive in 27 tumors whereas it was negative in 158 tumors. Among ALK positive cases, majority of the patients were of aged less than 50 years (n=18, 66.7%).The statistically significant difference was found between age and ALK gene rearrangement (p<0.05). Whereas no statistically significant relationship was found between ALK rearrangements and gender, ethnicity and smoking status (p>0.05). Conclusion: The results showed positive rearrangement of ALK gene in 15% of the patients which is in contrast to 7% patients found in western studies. ALK gene testing has become standard of care in patients of adenocarcinoma who are EGFR negative so that treatment like ALK gene inhibitors such as alectinib, brigatinib, ceritinib, crizotinib, and lorlatinib can be tailored accordingly. [ABSTRACT FROM AUTHOR]

Background: Type-1 diabetes mellitus (T1DM) and autoimmune thyroid disease can occur concomitantly and patients with TIDM have a high risk of other autoimmune conditions like thyroid disease and celiac disease. This study aimed to analyze the association of anti-GAD positive T1DM with anti-thyroid antibodies and celiac disease. Methods: This cross-sectional study was conducted at the Department of Paediatric Endocrinology & Diabetes, National Institute of Child Health, Karachi Pakistan from July 2022 to December 2022. A total of 115 children of both genders aged between 1-18 years having known T1DM were analyzed. Children with chronic kidney disease or chronic liver disease were excluded. Those children were also not included whose parents/caregivers did not wish their children to be part of this research. The blood sample of each child was taken in a sterilized container and sent to an institutional laboratory for biochemical investigations. Results: In a total of 115 patients, 67 (58.3%) were female and 48 (41.7%) males. The mean age was 8.87±3.43 (ranging between 1.5-17 years). The mean HbA1c was 11.86±7.31%. It was found that anti-GAD IgG was having signification association with celiac disease (p<0.001). Significant correlation of anti-GAD positive antibodies with Ttg-IgG antibodies (correlation coefficient=0.303, p=0.001), thyroid peroxidase antibodies (correlation coefficient=0.228, p=0.001). Conclusion: High proportions of children with anti-GAD positive T1DM patients were found to have thyroid disorders and celiac disease. A significant correlation was found between anti-GAD positive antibodies, celiac disease and anti-thyroglobulin antibodies. [ABSTRACT FROM AUTHOR]

Background: Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. A negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anaemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding. [ABSTRACT FROM AUTHOR]

Objective: To determine prevalence, causative organisms and sensitivity patterns of urinary1tract infections in febrile children. Study Design: Cross Sectional study. Setting: National Institute of Child Health, Karachi. Period: Jan 2019 to July 2019. Material & Methods: Patients from 3.0 to 14.0 years of age of either sex with complain of fever of >37.5 C for less than 2.0 weeks were included. Patients who have life threatening conditions, chronically ill, received antibiotics within 48 hours or had structural abnormalities of urinary tract like posterior ureteral valves and children with renal failure were excluded from study. Urinary sample was collected following aseptic measures of febrile children ad was sent to lab for culture and sensitivity within one hour of its collection. Sensitivity pattern was measured in lab via disc diffusion method. Data was analyzed using SPSS version 22. Results: The mean age was 8.6±3.3 years out of which 115 (65.7%) were male and 60 (34.3%) were females, mean duration of illness was 8.7±3.1 days. The frequency of culture positive UTI in febrile children was 21 (12%) cases. The common pathogen isolated from the urine culture was E. coli found in 10 cases followed by Klebsiella oxytoca. Overall 70% of E. coli are sensitive to. gentamicin and amikacin, 50% were sensitive to third generation cephalosporin, 60% of Klebsiella are sensitive to third generation cephalosporin, 60% resistant to gentamicin and amikacin and 80% were resistant to ampicillin. Conclusion: It was concluded from this study that the frequency of culture positive urinary tract infections in febrile children was 12% and common pathogen was E.coli followed by klebsilla oxytoca. [ABSTRACT FROM AUTHOR]

Objective: To assess the frequency of various types of gastrointestinal abnormalities in patients with Down's syndrome. Study Design: Cross Sectional Study. Setting: National Institute of Child Health, Karachi. Period: January 2019 June 2019. Material & Methods: All children with age 1 month to 16 years with Down's syndrome of either gender presented with gastrointestinal signs and symptoms were enrolled. History along with demographic information was obtained from parent and GI examination was done. The outcome variables like duodenal stenosis, gastrophageal reflux, imperforate anus and Hischsprung's disease were noted. Results: The mean age of the children was 8.53+4.07 years. The mean terminal age at the time of delivery was 30.70+3.60 years. The mean number of siblings was 1.08+0.91. Duodenal stenosis was found in 18(6.40%) patients, gastroesophageal reflux was found in 10(3.50%) patients, imperforate anus in 9(3.10%) and Hischsprung's disease was found in 7(2.40%) children. Conclusion: Duodenal stenosis was the most common gastrointestinal (GI) abnormalities found in patients with down's syndrome. [ABSTRACT FROM AUTHOR]

A two-step purification protocol is developed using stably overexpressed His-tagged Candida drug resistance protein 1 (Cdr 1p) in Saccharomyces cerevisiae. The analysis provides a catalytically active purified ATP-binding cassette (ABC) transporter from a fungal pathogen, which is amenable to intrinsic fluorescence measurements and hence would be useful in understanding the molecular basis of antifungal transport.

Objective: To determine the growth characteristics in children with congenital adrenal hyperplasia visiting tertiary care hospital Karachi. Study Design: Cross-Sectional study. Place and Duration of Study: Paediatrics Department, National Institute of Child Health, Karachi Pakistan, from Nov 2018 to May 2019. Methodology: All patients who visited the OPD were included in the study. Growth characteristics like underweight, normal BMI, overweight, obese and short stature were recorded. This information, along with the age of diagnosis, family history of CAH, parental consanguinity, family history of CAH or any abortion or prenatal death, were noted. Results: The mean age of the patients was 7.40±2.34 years. Out of 69 congenital adrenal hyperplasia patients, 41(59.4%) were males, and 28(40.6%) were females. The short suture was noted in 53(76.8%) patients. 19(27.5%) were underweight, 6(8.7%) were normal weight, 10(14.5%) were overweight, and 34(49.3%) patients w ere obese. Conclusion: A significant effect of congenital adrenal hyperplasia was documented in the children. [ABSTRACT FROM AUTHOR]

Abstract Background The major facilitator superfamily (MFS) is one of the two largest superfamilies of membrane transporters present ubiquitously in bacteria, archaea, and eukarya and includes members that function as uniporters, symporters or antiporters. We report here the complete transportome of MFS proteins of a human pathogenic yeast Candida albicans. Results Computational analysis of C. albicans genome enabled us to identify 95 potential MFS proteins which clustered into 17 families using Saier's Transport Commission (TC) system. Among these SP, DHA1, DHA2 and ACS represented major families consisting of 22, 22, 9 and 16 members, respectively. Family designations in C. albicans were validated by subjecting Saccharomyces cerevisiae genome to TC system. Based on the published available genomics/proteomics data, 87 of the putative MFS genes of C. albicans were found to express either at mRNA or protein levels. We checked the expression of the remaining 8 genes by using RT-PCR and observed that they are not expressed under basal growth conditions implying that either these 8 genes are expressed under specific growth conditions or they may be candidates for pseudogenes. Conclusion The in silico characterisation of MFS transporters in Candida albicans genome revealed a large complement of MFS transporters with most of them showing expression. Considering the clinical relevance of C. albicans and role of MFS members in antifungal resistance and nutrient transport, this analysis would pave way for identifying their physiological relevance.

This article discusses the challenges faced by individuals with Disorder of Sex Development (DSD) in Pakistan and proposes strategies for effective management and support. DSD is a complex medical condition characterized by atypical development of chromosomal, gonadal, or anatomical sex. In Pakistan, cultural and religious norms that emphasize a binary understanding of gender contribute to the stigmatization and discrimination faced by individuals with DSD. Limited access to specialized healthcare services, including accurate diagnosis and ongoing management, further exacerbates the challenges. The article highlights the importance of strengthening the healthcare infrastructure, providing psychosocial support and empowerment, promoting awareness and advocacy, and fostering collaboration among healthcare professionals, policymakers, and affected individuals to create a more inclusive and supportive society for individuals with DSD in Pakistan. [Extracted from the article]

Purified candida albicans drug resistance protein 1 (Crlp), an ATP-dependent drug efflux pump is reconstituted into sealed membrane vesicles to investigate Crlp as a phospholipids translocator. Results suggest a direct link between the ability of Cdrlp to translocate fluorescent phospholipids and efllux drugs.

The relevance of the unique positioning of an atypical Trp326 residues demonstrated using purified N-terminal NBD (NBD-512) domain of Cdr1p, a major multidrug extrusion pump of human pathogenic yeast Candida albicans. A demonstration of the five Trp residues in the NBD-512 domain, Trp326 alone is important for nucleotide binding and subsequent conformational changes within the domain is presented by employing fluorescence spectroscopy, chemical modification, and site-directed mutagenesis.

Objective: To determine the haematological pattern among children attending Paediatric OPD with diagnosis of malaria at tertiary care Hospital. Methods: In this observational study children with diagnosis of malaria, age of <12 years and either of gender were enrolled. Each patient underwent clinical examination and medical history regarding duration of fever including sign/symptoms and previous antimalarial treatment history. Three ml blood was collected from all the patients for the complete blood count (CBC). The haematological abnormalities were recorded. Entire data was gathered and filled in the proforma and its analysis was done by SPSS version 16.0. Results: Total 106 children were selected. Mean age was 5.31+2.47 years. Malarial infection was higher among male children 67(63.20%). Vivax parasite was most common among (53.80%), falciparum in 45.30%, while both parasites were found only in one case. Mean platelet count was 96.35+74.34 in children infected by falciparum malaria and 89.05+70.0 in vivax infected children (p-value=0.815). Mean haemoglobin level was 9.43+0.91 in falciparum malaria and 9.38+0.90 in vivax infection (p-value= 0.477). Mean WBC level was 5.81+1.35 in falciparum infected children and 6.06+1.41 in vivax infected children (p-value=0.614). There was no significant difference in haemoglobin and WBC according to parasites; p-values were insignificant. Conclusion: Plasmodium vivax was the commonest parasite; male children remained on high risk of malarial transmission. Haematological changes markedly appeared but statistically insignificant according to falciparum and vivax. [ABSTRACT FROM AUTHOR]

A rare condition known as Langerhans cell histiocytosis (LCH) is characterised by the clonal growth of dendritic cells called Langerhans cells, which play a significant role in the immune system. A diverse range of clinical presentations are probable as a result of this condition's ability to develop in different systems of the body. LCH presents with variable clinical manifestations, demonstrated by a range from specific multisystem involvement to more extensive bone abnormalities. This case report details the clinical course of a four-year-old male who presented with rash on the scalp and multiple lumps on the head for the past three months and a history of polyuria for two months. The findings were indicative of Langerhans cell histiocytosis after clinical and histological investigative studies. Moreover, endocrinological investigations demonstrated the development of central diabetes insipidus, as a complication.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as "Neurofibromin", which acts as an inhibitor of oncogene RAS. This gene mutation causes tumours to grow on nerves which results in other systemic abnormalities such as skin changes, bone and eye abnormalities, hormonal imbalances, and diversity in achievement of puberty with neurologic complications. NF1 has a wide variety of associations in context with puberty. It is important to determine the cause of precocious and delayed puberty in order to establish an early treatment plan, to lead a successful prognosis, and decrease complications. The case reports of two patients presenting with dichotomous pubertal variation in association with NF1 are presented.