Genetic disorders are the leading causes of mortality and morbidity in humans. The prevalence of genetic diseases varies widely between different clusters depending on their organization, reproductive practices, and various other sociocultural factors. These disorders are mainly caused by mutations in monogenic, polygenic or the combination of gene mutations, consanguineous marriage practices, and environmental factors leading to damage of chromosomes. Nearly 7000 different types of rare genetic diseases/disorders are being discovered frequently. Cytogenetic and molecular techniques have been widely implicated to detect variations in the chromosomes and in genes. Several innovative and extremely robust methods for sequencing the nucleic acids such as next-generation sequencing have become available in the past few years for diagnosing chromosomal and genetic disorders. We have summarized the rare genetic disorders, their cytogenetic location, candidate genes, novel mutations identified, and advanced diagnostic tools that are currently being used for rapid detection of these abnormalities. The application of advanced technologies is rapidly changing the background of genetic research and also in clinical practice. The identification of novel disease-causing genes, mutations, and predisposing genetic variants data is getting into accelerated. The availability of huge genetic information will uphold a better indulgent of genetic disease etiology, permit early, even per-symptomatic diagnosis, and preventive measures to avoid the onset of the disease. This review will make clinicians/pediatricians to classify rare disorders with their genes responsible, leading for accurate genetic diagnosis.

Background: The role of research was supported by faculty, researchers and professional organizations as an essential standard for practice and professional accountability. It is important to equip students with a strong research foundation to facilitate judging applicability of findings to clinical settings, and conducting research and eventually improving the quality of health-care. Increasing attention is directed to students' attitudes and involvement in research, however, no previous studies were located on the attitudes of Saudi students towards research. Aim: To investigate the attitudes of nursing students toward research in Saudi Arabia. Materials and Methods: A descriptive design with convenient sample of 244 senior students at a three-campus college of nursing in three regions in Saudi Arabia using a 22-items self-administered 4-point likert type attitude questionnaire. Results: Majority of students reported positive attitudes toward research with highest scores for 'usefulness of research' and 'personal interest in research' and lowest scores for 'using research in clinical practice'. Research attitudes significantly correlated with students' seniority and having completed a research course. Conclusions and Recommendations: Assessing students' attitudes towards research enhances implementation of findings in patient care and proposes means for developing positive attitudes and raising students' awareness of future role as practicing nurses. Students had positive attitudes toward research and its usefulness in professional work and less positive attitudes toward using research in practice. Faculty should develop students' knowledge and attitudes while studying at the college. Nursing and health-related professions researchers should direct attention to promoting the ultimate implementation of evidence-based practice by students as well as nurses

Background: Low-grade inflammation plays a role in pathogenesis of hypertension. Some of antihypertensive agents have anti-inflammatory effects. Aims: This study aimed to compare the serum levels of interleukin-17 (IL-17) and IL-1β in hypertensive patients treated with angiotensin converting enzyme inhibitors (ACEIs) and/or angiotensin receptor blockers with untreated hypertensive patients. Settings and Design: This observational study was carried in Departments of Medicine, College of Medicine, Diyala University in Iraq from June 2014 to December 2014. Materials and Methods: A total of 78 hypertensive patients treated with ACEIs and/or ARBs, and another 28 newly diagnosed hypertensive patients (without treatment at the time of admission into the study) were included in the study. Anthropometric measurements and the laboratory measurements included fasting serum lipid profile, and serum IL-1β and IL-17 levels as proinflammatory markers. Statistical Analysis: All calculations and analysis were made using Excel 2003 and SPSS program (version 17) for Windows. Results: There are nonsignificant differences in the anthropometric and lipid profile measurements between treated and untreated hypertensive patients. The blood pressure of patients treated with ARBs and/or ACEIs is significantly lower than the corresponding level of untreated patients but still higher than the cut-off level of 140/90 mmHg. Nonsignificant low serum IL-17 levels observed in treated hypertensive patients compared with untreated hypertensive patients. Significant inverse correlation between serum IL-17 with systolic (r = −0.420, P < 0.02) and diastolic (r = 0.491, P < 0.01) blood pressure observed in patients treated with ACEIs. Conclusions: We conclude that hypertensive patients treated with ACEIs and/or ARBs drugs showed inconsistent serum levels of IL-1β and IL-17 and a paradox is observed in the relation between these cytokines levels and blood pressure measurements.

Background: Tuberculosis (TB), though a curable infectious disease, remains one of the leading causes of death in adults. It is also a major public health concern in Nigeria. This study was aimed to determine the prevalence rate of tuberculosis among patients attending the out-patient Department of Dr. Lawrence Henshaw Memorial Hospital Calabar. Materials and Methods: A retrospective study was carried out consisting of all documented cases of tuberculosis from January 2005 to April 2015. Results: Out of 20185 patients tested, a total of 5,004 cases of tuberculosis was recorded within the period of this study with a prevalence rate of 24.8%. The prevalence for each year during this study were as follows: 2005 (37.5%), 2006 (30.9%), 2007 (26.2%), 2008 (23.1%), 2009 (23.0%), 2010 (20.5%), 2011 (16.6%), 2012 (20.5%), 2013 (22.9%), 2014 (21.8%) and 2015 (44.6%). HIV co-infection was more prevalence in males than females, while majority of the disease site was pulmonary tuberculosis (PTB). The highest mortality was recorded in 2012 (18.2%). Within the ethnic groups assessed, the prevalence was higher among the Efiks. Conclusion: The prevalence of TB/ HIV co-infection and subsequent mortality within the years under study is traumatizing and thus requires prompt measures in combating the situation.

Background: Kikuchi-Fujimoto disease was first described in 1972 in Japan and since then it has been reported worldwide. It is a self-limiting disorder typically seen in young females involving cervical lymph nodes and easily mistaken for tuberculosis or lymphoma. Objectives: The objective of this study is to analyze the clinical and histopathological details of Kikuchi's disease. Methods: Lymph node biopsy specimen of 96 cases of Kikuchi's disease was studied during a period of 12 years. Clinical data including the age, sex, presenting symptoms and sites of lymph node enlargement were recorded. Detailed histological sections were studied with hematoxylin and eosin, periodic acid-Schiff, and acid-fast stains. Results: Seventy-six out of 96 cases occurred in females (female: male ratio 3.5:1). The predominant age group affected was the second to third decade. The most common presenting symptom was cervical lymphadenopathy in 80/96 cases. Histology of lymph node showed multifocal necrosis, with pyknotic nuclear debris and absence of neutrophils. No vasculitis was observed. In all the cases, Mantoux test and special stains for infective organisms were negative. Conclusion: It is of paramount importance that awareness of this disorder should always be borne in mind and exclude lymphoma, tuberculosis, or autoimmune disorder such as systemic lupus erythematosus. These patients should be followed up with supportive treatment, since it is a self-limiting disorder.

Context: There has been an unexplained increase in the number of cases with multiorgan dysfunction including acute kidney injury (AKI), attributed to Plasmodium vivax monoinfection. Only a few case reports in literature have published the renal biopsy findings in these patients. Aims: The aim of this study was to evaluate the clinical and histopathologic profile of patients with P. vivax malaria monoinfection and AKI. Settings and Design: A prospective study was performed in a tertiary care hospital in North-Western India. Subjects and Methods: The study included patients diagnosed with P. vivax monoinfection on peripheral smear blood films and rapid diagnostic test (positive for P. vivax specific lactate dehydrogenase). AKI was defined based on the WHO criteria for complicated malaria, i.e. serum creatinine >265 μmol/l or 3 mg/dl. The patients were initiated on hemodialysis for persistent hyperkalemia, fluid overload, severe metabolic acidosis, or uremic symptoms. Renal biopsy was performed in the presence of active urinary sediments (proteinuria, hematuria) or persistence of renal failure >14 days. Results: A total of thirty patients fulfilled AKI criteria. The patients with AKI were older (mean age 42.1 ± 10.9 years), male, with a longer duration of illness (mean 12.3 ± 10 days) and associated with multisystem dysfunction. The mean serum creatinine was 7.58 ± 3.2 mg/dl, thrombocytopenia was seen in 47%. Thirty percent had severe anemia requiring a blood transfusion. Renal biopsy was performed in six patients for various indications. The most common pattern was acute tubular necrosis (four patients), followed by acute cortical necrosis (1), and thrombotic microangiopathy (one patient). The complete renal recovery was seen in 24 (80%). Two patients became dialysis-dependent. Conclusions: AKI associated with P. vivax monoinfection is not rare as previously thought. Therefore, it should be considered in the differential diagnosis of any patient presenting with AKI.

Paroxysmal movement disorders are clearly known to be associated with multiple sclerosis (MS). Paroxysmal dystonia (PD), also known as tonic spasm, is a well-recognized feature of MS. These symptoms as an initial presenting feature may be a diagnostic challenge for the treating physician and can often be mistaken as focal onset seizures. We present a case of 26-year-old girl, who presented with recurrent brief attacks of abnormal involuntary movements affecting the right upper extremity and neck for 3 years. She was diagnosed as a case of focal onset seizure disorder and was started on valproic acid. Her symptoms did not improve at all. She was admitted at King Fahd Hospital of the University, Khobar, Saudi Arabia and was diagnosed as a case of PD secondary to MS. Carbamazepine was started and showed promising results.

Misdirection of nasogastric tube (NGT) into the cranial cavity is a well-documented complication, usually seen in patients with fracture of skull base. However, there are very few nontrauma cases have been described in the literature with this complication in nontrauma cases. Approximately 39 cases of inadvertent insertion of NGT into the cranial cavity have been reported in the literature. We are reporting accidental malpositioning of NGT into the brain of an elderly lady who was admitted with medical illness. Her computed axial tomography scan of the head showed the intracranial placement of tube. The NGT was retrieved, but after 48 h of tube insertion, the patient expired. The aim to present this rare case is to create awareness about this potential and dreaded complication associated with NGT intubation.

The World Health Organization described gliosarcoma (GS) as a rare variant of glioblastoma multiforme. It is a biphasic neoplasm consisting of both gliomatous and sarcomatous elements. It was first described by Stroebe in 1895. Its peak incidence is in fourth to sixth decade of life with increased male to female ratio. We are presenting a case report of a 48-year-old male patient who presented to the hospital with signs and symptoms of headache, vomiting, and weakness in both upper and lower limbs. Computed tomography scan and magnetic resonance imaging revealed a mass lesion in the left posterior parietal lobe. The tumor was excised, and histopathology examination confirmed the diagnosis of GS.

Juvenile idiopathic arthritis (JIA) is the most common chronic arthropathy of children. JIA comprises a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting for at least 6 weeks. Childhood myelofibrosis (MF) is rare with variable outcome reported in literature. MF with myeloid metaplasia is defined as a myeloproliferative disorder characterized by leukoerythroblastosis, tear drop erythrocytes, extramedullary hematopoiesis, and varying degrees of MF. It may be idiopathic or secondary to a large number of conditions. Autoimmune MF has been commonly reported in association with systemic lupus erythematosus. MF presenting as cytopenias has been reported in immune mediated disorders such as rheumatoid arthritis, ulcerative colitis, primary biliary cirrhosis, polyarteritis nodosa, and Sjogren's syndrome. A case of MF in a 14 year old boy who presented with anemia, pancytopenia, splenomegaly, and oligo articular arthritis is described which as per the literature falls into the rarest of cases to be found. This case is only the second reported case of MF associated with JIA in world literature, the only previous case being reported by Jain et al. in 2005 from India.

Lingual thyroid is a rare developmental abnormality characterized by the failure of the thyroid gland, or remnants, to descend from anywhere along its embryologic path of origin at the foramen cecum to its normal eutopic pretracheal position. Awareness of the anatomic course of the embryologic thyroid primordium and typical and atypical locations of ectopic thyroid tissue may aid in diagnosis. The reported incidence of lingual thyroid is 1 in 100,000, and it is more common in females, with a female:male ratio ranging between 3:1 and 7:1. Lingual thyroid located at the base of tongue often present with hypothyroidism, usually asymptomatic but may cause dysphonia, dysphagia, upper airway obstruction, and hemorrhage. In the current case report, we present the imaging characteristics of lingual thyroid occurring in a 12-year-old female patient. Partial endoscopic removal of lingual thyroid was performed, followed by substitutive exogenous thyroid hormone therapy. The purpose of this article is to discuss the radiological characteristics and therapeutic issues in the management of lingual thyroid.