Impact of different decontamination methods on the reduction of spiromesifen residue in chilli fruits.

Chilli is an indispensable food item in the daily life of humans but it is affected by many insects, so various pesticides, including spiromesifen, are applied to chilli crops to protect this crop from insect infestation. However, the use of pesticides poses environmental and health issues. These issues have raised the demand for pesticide-free chillies among consumers.

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.

Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitive impairment can occur. A complex interplay of different cell types and multiple signaling pathways are required for correct craniofacial development.

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is to identify the underlying genetic causes of the rare spinocerebellar disorders in the Pakistani population. Herein, nine consanguineous families presenting different spinocerebellar phenotypes have been investigated using whole exome sequencing.

Role Of Intralesional Vitamin-D In Viral Wartse.

Background: The study was to look for effectiveness of vitamin D-3 in cutaneous warts in comparison with cryotherapy at dermatology department of Pak Emirates Military Hospital Rawalpindi. It was a randomized control trial conducted at the Department of dermatology Pak Emirates Military Hospital Rawalpindi. Ten months, June 2019 to May 2020.

Perspectives on frailty screening, management and its implementation among acute care providers in Singapore: a qualitative study.

Background: COVID-19 pandemic has reminded how older adults with frailty are particularly exposed to adverse outcomes. In the acute care setting, consideration of evidence-based practice related to frailty screening and management is needed to improve the care provided to aging populations. It is important to assess for frailty in acute care so as to establish treatment priorities and goals for the individual.

A Homozygous Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes encode centrosomal proteins.

Updates on Clinical and Genetic Heterogeneity of in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.

Microcephaly (MCPH) is a genetically heterogeneous disorder characterized by non-progressive intellectual disability, small head circumference, and small brain size compared with the age- and sex-matched population. MCPH manifests as an isolated condition or part of another clinical syndrome; so far, 25 genes have been linked with MCPH. Many of these genes are reported in Pakistani population, but due to a high rate of consanguinity, a significant proportion of MCPH cohort is yet to be explored.

A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.

Bilaterally Asymmetrical Becker's Nevus.

Becker's nevus is a main epidermal hypermelanotic condition that usually presents in adolescence, though childhood cases are seen less commonly. Congenital cases have been rarely reported. Nevus is usually unilateral having increased pigmentation and is characterized by hypertrichosis.

Effectiveness Of Oral Omega 3 In Reducing Mucocutaneous Side Effects Of Oral Isotretinoin In Patients With Acne Vulgaris.

Background: Acne vulgaris has been a common clinical condition. Due to. high prevalence and unclear etio-pathogenesis of acne vulgaris, large number of treatment options have been available across the globe.

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.

Myotonic dystrophy type 1 (DM1) is an RNA-based disease with no current treatment. It is caused by a transcribed CTG repeat expansion within the 3' untranslated region of the dystrophia myotonica protein kinase () gene. Mutant repeat expansion transcripts remain in the nuclei of patients' cells, forming distinct microscopically detectable foci that contribute substantially to the pathophysiology of the condition.

Analysis of chemical composition of urinary calculi from Northern border area of Saudi Arabia.

The present study aimed to investigate the chemical composition of urinary calculi in people living in the northern border area of Saudi Arabia and to formulate suggestions for prevention of renal stones. Urinary stones were obtained from patients attending the Urology Departments of Prince Abdul Aziz Bin Musaad Hospital and Central Hospital, Arar, Saudi Arabia. Stones were analyzed using kit for semi-quantitative colorimetric determination of carbonate, calcium, magnesium, ammonium, oxalate, phosphate, uric acid and cysteine; manufactured by LTA s.

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in brain size but with normal architecture. It is often linked to mutations in genes coding for centrosomal proteins; however, their role in brain size regulation is not completely understood. By combining homozygosity mapping and whole-exome sequencing in an MCPH family from Pakistan, we identified a novel mutation (XM_011518861.

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

There are 3 major sweat-producing glands present in skin; eccrine, apocrine, and apoeccrine glands. Due to the high rate of secretion, eccrine sweating is a vital regulator of body temperature in response to thermal stress in humans; therefore, an inability to sweat (anhidrosis) results in heat intolerance that may cause impaired consciousness and death. Here, we have reported 5 members of a consanguineous family with generalized, isolated anhidrosis, but morphologically normal eccrine sweat glands.

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromosome 12p11.1-q14.

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and 'pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations. We report on a large consanguineous family segregating six members with early onset HSP.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference, reduction in the size of the cerebral cortex with otherwise grossly normal brain structure and variable intellectual disability. MCPH is caused by mutations of 11 different genes which code for proteins implicated in cell division and cell cycle regulation. We studied a consanguineous eight-generation family from Pakistan with ten microcephalic children using homozygosity mapping and found a new MCPH locus at HSA 7q21.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Background: Anonychia/hyponychia congenita is a rare autosomal recessive developmental disorder characterized by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails frequently caused by mutations in the R-spondin 4 (RSPO4) gene.

Methods: Three hypo/anonychia consanguineous Pakistani families were ascertained and genotyped using microsatellite markers spanning the RSPO4 locus on chromosome 20p13. Mutation screening of the RSPO4 gene was carried out by direct sequencing of the entire coding region and all intron-exon boundaries.

Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus × Bos taurus cattle.

Two clinically healthy mature Pakistani Bos indicus × Bos taurus cattle were genotyped as homozygous affected for the lethal immunodeficiency disorder bovine leukocyte adhesion deficiency (BLAD) using previously described PCR-RFLP based DNA tests which was confirmed by sequencing. Sequencing of Bos taurus and B. indicus × B.

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We have identified a large consanguineous Pakistani family affected by NCIE.

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.

Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities.

Why dermatology patients are hospitalized? A study from Pakistan.

In most countries, there are no specified protocols or guidelines for admitting dermatology patients and admission criteria depend on assessment and sometimes the whim of the dermatologist. Although the severity and extent of the disease are the commonest reasons for hospitalizing dermatology patients, sometimes other factors also operate to provide comfort to the patient. This study was carried out to determine the reasons for hospitalizing patients on dermatology beds in secondary care hospitals of Pakistan.

Crossed testicular ectopia.

Crossed testicular ectopia/transverse testicular ectopia is an extremely rare anomaly, in which both gonads migrate toward the same hemiscrotum. About 100 cases of transverse testicular ectopia have been reported in published studies. We report a case of transverse testicular ectopia in an 8-year-old boy who presented with right inguinal hernia and nonpalpable left testis.