A Rare Case of Niemann-Pick Disease Type-A.

Niemann-Pick disease is a rare lysosomal storage, autosomal recessive disorder that impairs the body's ability to metabolize fats, thus leading to accumulation within cells. It can affect various organs, most commonly the brain, liver, spleen, bone marrow and lungs. Hepatosplenomegaly, inability to thrive and varying neurological deficits are the defining features. The three main types of Niemann-Pick disease are: NPD-A (Niemann-Pick disease type A), NPD-B (Niemann-Pick disease type B) and NPD-C (Niemann-Pick disease type C). NPD-A and NPD-B are due to enzyme acid sphingomyelinase deficiency, caused by SMPD-1 (Sphingomyelin phosphodiesterase 1) gene mutation and NPD-C is due to NPC-1 and NPC-2 (Niemann-Pick C1 and C2 protein) gene mutation. This is the case report of an 11-month-old infant who presented to OPD (Outpatient Department) with failure to thrive, abdominal distension and developmental delay. On examination the infant was emaciated, pale, had hepatosplenomegaly and developmental delay. Bone marrow and liver biopsy showed characteristic lipid-laden foamy macrophages. Thus detailed history, examination and investigations confirmed NPD-A. NPD-A has a poor prognosis and is usually fatal by three years of age. The patient was provided supportive treatment like nutritional therapy and physiotherapy, and parents were counselled regarding the disease outcome. The patient is regularly followed up, and two episodes of chest infections were reported during an 8-month period of follow-up.

Topical Anesthetics and Premature Ejaculation: A Systematic Review and Meta-Analysis.

This meta-analysis was conducted to assess the effectiveness of topical anesthetics in preventing premature ejaculation. We conducted an online database search for original studies comparing topical anesthetic agents with placebo in patients with premature ejaculation. After selecting relevant articles, we extracted data on baseline characteristics and predetermined endpoints. Intravaginal ejaculatory latency time (IELT) was the primary outcome for efficacy. Mean differences and corresponding 95% confidence intervals were used to present continuous data. A random-effects model was used to pool the data, and subgroup analysis was performed based on the type of anesthetic agent used. Eleven randomized controlled trials were examined, involving a total of 2008 participants. After analyzing the combined results, it was found that Severance Secret (SS) cream (CJ CheilJedang Corporation, Seoul, South Korea) demonstrated significantly higher effectiveness than a placebo in increasing IELT (P = 0.001). Similarly, the topical eutectic mixture for premature ejaculation (TEMPE), lidocaine, and the eutectic mixture of local anesthetics (EMLA) were significantly more efficient than a placebo (P<0.00001; P = 0.0001; P<0.00001). Additionally, it was found that lidocaine gel was more efficient than paroxetine or sildenafil (P = 0.04; P<0.00001). In conclusion, topical anesthetics increase IELT in men with premature ejaculation more effectively than placebo, sildenafil, tadalafil, paroxetine, and dapoxetine.

OsTZF1, a CCCH-tandem zinc finger protein gene, driven under own promoter produces no pleiotropic effects and confers salt and drought tolerance in rice.

Different abiotic stresses induce OsTZF1, a tandem CCCH-type zinc finger domain gene, in rice. Here, we report that transgenic rice plants overexpressing OsTZF1 under own promoter (POsTZF1:OsTZF1-OX [for overexpression]) transferred to soil showed normal growth similar to vector control plants. The POsTZF1:OsTZF1-OX produced normal leaves without any lesion mimic phenotype and exhibited normal seed setting. The POsTZF1:OsTZF1-OX plants showed significantly increased tolerance to salt and drought stresses and enhanced post stress recovery. Microarray analysis revealed a total of 846 genes up-regulated and 360 genes down-regulated in POsTZF1:OsTZF1-OX salt-treated plants. Microarray analysis of POsTZF1:OsTZF1-OX plants showed the regulation of many abiotic stress tolerance genes. These results suggest that OsTZF1-OX under own promoter show abiotic stress tolerance and produces no pleiotropic effect on phenotype of transgenic rice plant.

Introduction of Arabidopsis's heat shock factor HsfA1d mitigates adverse effects of heat stress on potato (Solanum tuberosum L.) plant.

Thermal stress induces a wide array of morphological and physiological changes in potato affecting its development and economic yield. Response to thermal stress in plants is mostly regulated by heat shock factors (hsfs). The current study aimed at improving heat tolerance by transforming potato plant with heat shock factor, HsfA1d, using Agrobacterium. Gateway cloning strategy was adopted for isolation of HsfA1d from Arabidopsis thaliana and cloning into plant expression vector. The target gene was introduced into potato by infecting internodal explants with Agrobacterium strain GV3101 carrying pGWB402Ω-HsfA1d construct. Upon exposure to heat stress, the wild-type plants turned yellowish, whereas no phenotypic effect on transgenic plants was observed. Expression of HsfA1d in transgenic plants was increased by 5.8-fold under thermal stress compared to room temperature. Transgenic plants exhibited 6-fold increase in the expression of downstream HSP70 under thermal stress compared to wild-type plants. Both chlorophyll a and b were significantly decreased in wild-type plants while no such decrease was recorded in transgenic plants under thermal stress. Heat stress was found to have no significant effect on carotenoid pigments of both wild-type and transgenic plants. Significantly lower electrolyte leakage from transgenic plants was witnessed compared to wild type upon exposure to thermal stress. Transgenic plants accumulated significantly higher proline content compared to wild-type plants under heat stress. It is concluded that HsfA1d plays a vital role in plant thermotolerance and hence can be effectively used to enhance the resistance of crop plants against heat stress.

A Mature Cystic Teratoma of the Urinary Bladder.

We report a case of a mature cystic teratoma of urinary bladder in a 17-year female, which is extremely rare. The patient presented with pain in suprapubic region for one year. On computerized tomography (CT) of abdomen and pelvis, a welldefined, enhancing heterogeneous soft tissue density lesion measuring 2.5x2.3x3 cm with mean density of 48 Hounsfield unit was found originating from the superior wall of the urinary bladder and projecting into the lumen. Cystoscopy showed a 2X2 cm growth containing concretions. Resection of the lesion was done with wide margin by transurethral resection of bladder tumor (TURBT). Histopathological examination showed fragments of skin, sebaceous glands, fat and muscle cells, confirming mature cystic teratoma.

Illegal product manufacturing and exportation from Pakistan: Revealing the factuality of highly processed wildlife skin samples via DNA mini-barcoding.

Illegal trade is a major threat to the biodiversity and the efforts initiated for the conservation of wildlife. The shortcomings of the traditional taxonomic identification methods have been coped by a revolutionary and emerging technique, the "DNA (Deoxyribonucleic Acid) barcoding". Here we report a case of trader who was allegedly making footwear for a famous international celebrity from wild animal cutis. The samples confiscated during a raid on a footwear manufacturing industry by KP Wildlife department in August, 2016, were received by Bioresource Research Centre (BRC) for molecular identification on 1st September, 2016. The study costed about USD 88 from processing to the identification of the samples. The samples identified via DNA mini-barcoding by targeting cytochrome oxidase I (COI) gene belong to Gazella bennettii and Bos taurus. Such studies are helpful for credible investigations that only lead to effective prosecution and control of illegal wildlife trade ultimately helping in conservation of wild animals.

Post-PCNL Renal Artery Pseudoanurysm.

A renal artery pseudoaneurysm is a rare but important complication that can occur after renal trauma, renal biopsy, percutaneous nephrostomy, percutaneous nephrolithotomy (PCNL), and partial nephrectomy. The incidence of this potentially life-threatening complication is less than 1%, but is likely to increase with the increasing popularity of endoscopic renal procedures. We present a case of a 30-year female who underwent right PCNL for a right renal pelvic stone. Two weeks later, she presented with massive hematuria. Renal angiography revealed psuedoanurysm of interlobar artery which was successfully treated with coil embolization.

Abdominal Supernumerary Testis Complicated by Yolk Sac Tumor.

We describe a case of a 26-year man with complaints of suprapubic pain and burning micturition for two weeks and intermittent hematuria for two months. On physical examination, there was palpable mobile pelvic mass measuring 10x10 cm. Both testes were palpable in the scrotum. CT scan abdomen revealed well-defined, soft tissue mass, about 11x10 cm between rectum and urinary bladder. Mass showed internal necrotic changes and enhancement along the walls. No calcification was seen. Exploratory laparotomy was done. Tumour mass was nodular tissue weighing 194 gm. Diagnosis was confirmed histologically showing yolk sac tumor. Postoperatively, tumour markers were normal. MRI pelvis revealed no residual tumor.

Iatrogenic foreign body in the urinary bladder.

A 60 years old man presented with a history of suprapubic pain, painful micturition, perineal pain, and acute retention of urine followed by catheterization. On abdominal ultrasound, there was a metallic needle found in the urinary bladder which was confirmed on pelvis X-ray. The needle was found to be a metallic piece of a resectoscope cutting loop which was removed through cystourethroscopy.

Carnivore diet analysis based on next-generation sequencing: application to the leopard cat (Prionailurus bengalensis) in Pakistan.

Diet analysis is a prerequisite to fully understand the biology of a species and the functioning of ecosystems. For carnivores, traditional diet analyses mostly rely upon the morphological identification of undigested remains in the faeces. Here, we developed a methodology for carnivore diet analyses based on the next-generation sequencing. We applied this approach to the analysis of the vertebrate component of leopard cat diet in two ecologically distinct regions in northern Pakistan. Despite being a relatively common species with a wide distribution in Asia, little is known about this elusive predator. We analysed a total of 38 leopard cat faeces. After a classical DNA extraction, the DNA extracts were amplified using primers for vertebrates targeting about 100 bp of the mitochondrial 12S rRNA gene, with and without a blocking oligonucleotide specific to the predator sequence. The amplification products were then sequenced on a next-generation sequencer. We identified a total of 18 prey taxa, including eight mammals, eight birds, one amphibian and one fish. In general, our results confirmed that the leopard cat has a very eclectic diet and feeds mainly on rodents and particularly on the Muridae family. The DNA-based approach we propose here represents a valuable complement to current conventional methods. It can be applied to other carnivore species with only a slight adjustment relating to the design of the blocking oligonucleotide. It is robust and simple to implement and allows the possibility of very large-scale analyses.

Primary adrenal lipoma.

A case report of primary adrenal lipoma is being presented. A 35-year-old male, initially presented with pain in right loin and was admitted to Urology Unit of Prince Abdullah Bin Abdul Aziz Hospital, Bisha, KSA, for frank hematuria. The tumour was suspected on IVU and ultrasound abdomen and confirmed on CT-scan of abdomen. Right adrenalectomy was successfully performed and histopathology confirmed the diagnosis of adrenal lipoma.