To evaluate the molecular aberrations at 11p15.5 locus in thirty-two patients with isolated lateralized overgrowth (ILO). Among selected 32 cases of ILO, methylation-sensitive multiplex ligation-dependent probe amplification (MS-MLPA) was performed initially followed by short tandem repeats (STR) marker analysis to confirm uniparental disomy (UPD). In those patients with normal MLPA reports, cyclin dependent kinase inhibitor 1C (CDKN1C) gene and whole exome sequencing was performed.

What is the frequency of PLCZ1, ACTL7A, and ACTL9 variants in male patients showing fertilization failure after ICSI, and how effective is assisted oocyte activation (AOA) for them?. Male patients with fertilization failure after ICSI manifest variants in PLCZ1 (29.09%), ACTL7A (14.81%), and ACTL9 (3.70%), which can be efficiently overcome by AOA treatment with ionomycin.

We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely. Here, we present seven cases of MLC.

Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease beyond the typical presentation of Alport syndrome (AS). A review of clinical and histological records from 2015-2023 identified 43 patients (34 boys) with 39 variants in COL4A5 (n = 27), COL4A4 (n = 7), and COL4A3 (n = 5), with X-linked, autosomal recessive, and autosomal dominant inheritance in 30, 8, and 5 patients, respectively. The median age and eGFR at diagnosis were 10 years and 100.1 ml/min/1.73 m². Fifteen patients initially presented with steroid-resistant nephrotic syndrome, and AS was suspected due to persistent hematuria, low eGFR, characteristic histology, and non-response to immunosuppression. Kidney biopsies revealed focal segmental glomerulosclerosis, minimal change disease, or mesangial proliferative glomerulonephritis. Electron microscopy confirmed glomerular basement membrane changes in 12 cases. Nearly half (48.8%) had sensorineural hearing loss, and 12 patients progressed to chronic kidney disease stages 4-5, with median survival of 15.6 years with eGFR > 30 ml/min/1.73 m². The AS phenotype varies from urinary abnormalities to more severe manifestations, with worse outcomes in boys with X-linked disease.

Multiple myeloma, a complex hematologic malignancy, causes severe bone loss, pain, and fractures that significantly impact patients’ quality of life and survival. This article reviews current biomarkers used for diagnosis and prognosis, from traditional serum markers to advanced molecular profiling techniques, highlighting their utility and limitations. It emphasizes the role of personalized medicine in tailoring therapies and explores the integration of genomic, proteomic, and next-generation sequencing data to better understand disease progression. The article provides valuable insights for clinicians and researchers to optimize patient care and improve therapeutic strategies.

Nine novel HLA alleles were identified when HLA typing individuals from the Indian population.

GNE myopathy is a rare, slowly progressive adult-onset distal myopathy with autosomal recessive inheritance, characterized by quadriceps sparing and preferential anterior tibial involvement. Most patients become wheelchair-bound 10-20 years after onset. This study retrospectively analyzed the phenotype-genotype characteristics and disease progression in 157 GNEM patients from a neurology referral hospital in southern India. The mean age at onset and diagnosis was 26.5±6.2 years and 32.8±7.8 years, respectively, with an Male to Female ratio of 25:13. The most common presenting symptom was foot drop (46.5%), with tibialis anterior involvement in 89.2% and early quadriceps weakness in 3.2%. The Indian Founder variant (c.2179 G>A, p.Val727Met) was identified in 82.2% of patients, predominantly in a compound heterozygous state, and was associated with a more severe phenotype. The study highlights genotype-clinical parameter relationships, suggesting that specific GNE genotypes could predict disease severity and progression.

Extended sequences for 13 HLA alleles were found which had limited coverage previously.

Cases of imported malaria are reported each year in several malaria non-endemic countries, including Kuwait. PCR testing is the ideal method for identification of the infecting Plasmodium spp. The present study documented the epidemiologic characteristics of molecularly confirmed cases of imported malaria in Kuwait during the first year of COVID-19 pandemic. Malaria diagnosis was made by microscopy of blood-stained smears and confirmed by a multiplex real-time PCR assay. Samples with discordant species identification results were sequenced. A total of 27 cases (27%) [P. falciparum, 14; P. vivax, 11; P. ovale, 1; mixed P. falciparum and P. malariae, 1] were detected, of whom 12 came to Kuwait for the first time and 15 were returning after visiting their home countries. Most of the returning travelers (12 out of 15 cases, 80%) had not received malaria chemoprophylaxis. Most cases of falciparum malaria (13/15) were Africans while most of the vivax cases (9/11) were Asians. Malaria was more common among subjects entering Kuwait for the first time (OR = 4.025, CI 1.07,15.1) and illiterates (OR = 13.8, CI 1.8,101.4). In conclusion, imported malaria caused mainly by P. falciparum and P. vivax was an ongoing problem during the COVID-19 pandemic. Travel history and education level were significant predictors of malaria among suspected cases.