Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.

Palmoplantar keratoderma (PPK) is a rare group of excessive skin disorder characterized by thickness over the palms and soles. The striate palmoplantar keratoderma (PPKS) is a form in which hyperkeratotic lesions are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. Dominantly inherited mutations in genes including desmoglein 1, desmoplakin and keratin 1 have been suggested as genetic causes of PPKS.

Modulation of Cellular Response to Arsenic Trioxide Toxicity by Resveratrol.

Arsenic trioxide (AsO) is an environmental carcinogen and a putative endocrine disruptor. Resveratrol has been shown to reverse AsO-induced oxidative damage. In immortalized but nontransformed estrogen receptor α-negative human breast cells (MCF10A), we observed that 25 μM resveratrol ameliorated AsO-induced cytotoxicity.

Single quantum dot tracking reveals the impact of nanoparticle surface on intracellular state.

Inefficient delivery of macromolecules and nanoparticles to intracellular targets is a major bottleneck in drug delivery, genetic engineering, and molecular imaging. Here we apply live-cell single-quantum-dot imaging and tracking to analyze and classify nanoparticle states after intracellular delivery. By merging trajectory diffusion parameters with brightness measurements, multidimensional analysis reveals distinct and heterogeneous populations that are indistinguishable using single parameters alone.

Draft Genome Sequence of Bacillus pumilus SCAL1, an Endophytic Heat-Tolerant Plant Growth-Promoting Bacterium.

strain SCAL1 is an endophytic, thermophilic plant that was isolated from the leaf of a plant, L., in Sindh, Pakistan. strain SCAL1 has usually exhibited high resistance to environmental stresses, with a growth temperature ranging from 30 to 60°C.

Sorafenib-induced tumor lysis syndrome in a patient with metastatic hepatocellular carcinoma.

Tumor lysis syndrome is a potentially lethal complication of chemotherapy, usually associated with aggressive hematologic malignancies. We describe the case of a young patient with metastatic hepatocellular cancer who developed rapid and fatal tumor lysis syndrome following initiation of sorafenib therapy. Although rare with sorafenib therapy for hepatocellular carcinoma, tumor lysis syndrome is serious complication.

Petrographic characterization to build an accurate rock model using micro-CT: Case study on low-permeable to tight turbidite sandstone from Eocene Shahejie Formation.

Pore scale flow simulations heavily depend on petrographic characterizing and modeling of reservoir rocks. Mineral phase segmentation and pore network modeling are crucial stages in micro-CT based rock modeling. The success of the pore network model (PNM) to predict petrophysical properties relies on image segmentation, image resolution and most importantly nature of rock (homogenous, complex or microporous).

Three unrelated protease inhibitors enhance accumulation of pharmaceutical recombinant proteins in Nicotiana benthamiana.

Agroinfiltrated Nicotiana benthamiana is a flexible and scalable platform for recombinant protein (RP) production, but its great potential is hampered by plant proteases that degrade RPs. Here, we tested 29 candidate protease inhibitors (PIs) in agroinfiltrated N. benthamiana leaves for enhancing accumulation of three unrelated RPs: glycoenzyme α-Galactosidase; glycohormone erythropoietin (EPO); and IgG antibody VRC01.

Frequency of obsessive compulsive symptoms in depression: A hospital-based cross-sectional study.

Objective: To determine the frequency of obsessive compulsive symptoms in patients suffering from depression.

Methods: This cross-sectional study was conducted at the Allama Iqbal Memorial Teaching, Sialkot, Pakistan, from February 2014 to March 2017, and comprised patients suffering from depression. Every patient was examined by a consultant psychiatrist or a senior medical officer in psychiatry, and a psychologist to establish clinical diagnosis of depression according to the tenth revision of the International Statistical Classification of Diseases and Related Health Problems.

Structure-Activity Relationship Studies with Tetrahydroquinoline Analogs as EPAC Inhibitors.

EPAC proteins are therapeutic targets for the potential treatment of cardiac hypertrophy and cancer metastasis. Several laboratories use a tetrahydroquinoline analog, CE3F4, to dissect the role of EPAC1 in various disease states. Here, we report SAR studies with tetrahydroquinoline analogs that explore various functional groups.

Outcomes of open reduction and internal fixation in displaced intra-articular scapular fractures : a case series.

Scapular fractures are rare injuries and usually occur due to high energy trauma. Displaced Intra articular fractures usually require operative treatment and yields better outcomes as compared to conservative management. To assess the functional and radiological outcomes of displaced intra-articular scapular fractures managed with open reduction and internal fixation.

Low Nasal NO in Congenital Heart Disease With Systemic Right Ventricle and Postcardiac Transplantation.

Background: NO bioavailability has not been systematically examined in congenital heart disease (CHD). To assess NO in patients with CHD, we measured nasal NO (nNO) generated by the nasal epithelia, given blood NO is difficult to measure (half-life, <2 ms). Given NO's role in hemodynamic regulation and the association of NO bioavailability with heart failure risk, we hypothesized NO levels may differ with varying severity of CHD physiologic characteristics.

Solvent Extraction and Gas Chromatography-Mass Spectrometry Analysis of Annona squamosa L. Seeds for Determination of Bioactives, Fatty Acid/Fatty Oil Composition, and Antioxidant Activity.

The yield and fatty oil components of the seed kernels of Annona squamosa L. (Family: Annonaceae) were determined by solvent extraction method and gas chromatography-mass spectrometry (GC-MS). Seeds were extracted with ethanol and further fractionated with n-hexane.

Herpes Zoster During Immunosuppressive Therapy For Autoimmune Diseases.

Background: Patients on immunosuppressive therapy are at a greater risk for herpes zoster reactivation and are more likely to have adverse outcomes. Propylactic antivrials and vaccinations may potentially prevent these complications.

Methods: Medical literature addressing the clinical course and therapy of herpes zoster in patients receiving immunosuppressive therapy for autoimmune disorders, and the roles of anti-viral prophylaxis and vaccination was reviewed.

Marked Atrophic Changes of the Brain in a Patient with Subacute Sclerosing Panencephalitis.

Subacute Sclerosing Panencephalitis (SSPE) is a debilitating disorder associated with the measles infection in childhood. It is a very rare manifestation in children. It usually presents with measles before the age of two.

Airway ciliary dysfunction: Association with adverse postoperative outcomes in nonheterotaxy congenital heart disease patients.

Objective: Heterotaxy (HTX) congenital heart disease (CHD) patients with ciliary dysfunction (CD) have been shown to have increased postoperative respiratory morbidity. We hypothesized that non-HTX CHD infants with CD also will have increased postoperative morbidity, particularly respiratory complications.

Methods: Sixty-three infants with non-HTX CHD undergoing cardiac surgery were enrolled.

Correction to: HIV-1 genetic diversity, geographical linkages and antiretroviral drug resistance among individuals from Pakistan.

Unfortunately, the co-author's name Nouman Mughal was incorrectly published in the original article and the same is corrected here in this erratum.

Cytogenetic Abnormalities in Myelodysplastic Syndromes: An Overview.

Karyotype is one of the main constituents of the International Prognostic Scoring System (IPSS) and revised-IPSS that are the cornerstones for the prognostication of patients with myelodysplastic syndromes (MDS). Del(5q), -7/del(7q), +8 and -Y are among the most extensively studied cytogenetic abnormalities in MDS. The same applies for normal karyotype.

Proximal Femur Locking Plate for Sub-Trochanteric Femur Fractures: Factors Associated with Failure.

Introduction: Proximal femur locking compression plates (PF-LCP) have gained popularity since their inception due to superior biomechanical stability and durability but clinical experience has shown conflicting results including implant failure.

Objective: To study the incidence of implant failure in patients with sub-trochanteric fractures managed with proximal femoral locking compression plate and identify potential risk factors associated with the failure.

Materials & Methods: Fifty patients with sub-trochanteric fractures, operated upon with titanium PF-LCP were included in the study from January 2012 to December 2014.

Prevalence of Obesity in Carpal Tunnel Syndrome Patients: A Cross-Sectional Survey.

Carpal tunnel syndrome (CTS) is the most common compressive entrapment neuropathy caused by the compression of the median nerve at the wrist space known as the carpal tunnel. The epidemiologic factors related to CTS include genetic, medical, social, vocational, and demographic factors. The common symptoms experienced include pain, paresthesia, and numbness in the median nerve distribution.

Combination Therapy for Multidrug-Resistant Klebsiella Pneumoniae Urinary Tract Infection.

Hospital-acquired multidrug-resistant (MDR) Klebsiella infection is posing a significant challenge to physicians all around the world. The spread of multiple antibiotic resistance among various members of bacteria continues to be a significant clinical threat. Antibiotic susceptibility testing is the initial step in optimizing the appropriate antibiotic therapy for infections with MDR Klebsiella.

Extensive Pyoderma Gangrenosum: A Challenging Diagnosis and Literature Review of Management.

Pyoderma gangrenosum is a very rare, non-infectious leukocytic dermatosis, which is often associated with an underlying systemic disease. It is usually diagnosed based on the apparent clinical findings and by excluding other causes of ulcerative skin diseases. Treatment modality includes the use of systemic steroids and oral steroids.