A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family / 亚洲男科学杂志(英文版)

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenozoospermia categorized by immotile spermatozoa with abnormal flagella in ejaculate. Whole-exome sequencing (WES) is used to detect pathogenic variants in patients with MMAF. In this study, a novel homozygous frameshift variant (c.6158_6159insT) in dynein axonemal heavy chain 8 (DNAH8) from two infertile brothers with MMAF in a consanguineous Pakistani family was identified by WES. Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella in these patients. Furthermore, an immunofluorescence assay showed the absence of DNAH8 and a reduction in its associated protein DNAH17 in the patients' spermatozoa. Collectively, our study expands the phenotypic spectrum of patients with DNAH8-related MMAF worldwide.

Novel biallelic loss-of-function mutations in / 亚洲男科学杂志(英文版)

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.

Percutaneous tracheostomy by physician intensivists

Objective: To assess the safety of percutaneous tracheostomy when performed by physician intensivists

Study Design: Descriptive study

Place and Duration of Study: Adult Medical ICU in the Department of Critical Care Medicine, Military Hospital, Rawalpindi, Pakistan, from September 2013 to August 2016

Methodology: Departmental record for percutaneous tracheostomies, performed by physician intensivifts, was evaluated. Variables studied were underlying primary diagnosis, details of the operating doctors, presence of immediate complications, departmental protocol for the procedure, pre-procedure safety checklist, written instructions on procedure steps, use of ultrasound and bronchoscopy. Portex Percutaneous Dilation Tracheostomy Kit with Single-Stage Dilator was used in all the patients

Results: Fifty-six percutaneous tracheostomy procedures were performed with a male to female ratio 3:1; more than 2/3[rd] [80%] had an underlying neurological illness. All doctors performing the procedures were physicians having minimum qualification of Fellowship with at least one year experience in intensive care and had observed at least five procedures. Departmental protocol for the procedure was followed in all the cases. Minor complications were observed in three patients [5.35%]. These included para-tracheal misplacement, accidental de-cannulation, and endotracheal tube cuff puncture. None of the patient died due to direct complications of the procedure

Conclusion: Percutaneous tracheostomy is safe in Medical ICUs of developing countries, when performed by experienced physician intensivists under defined protocols

Comparison of 23 gauge transconjunctival releasable suture vitrectomy with standard 20 gauge vitrectomy

Objective: To compare effectiveness of releasable transconjunctival sutures in 23 gauge vitrectomy and standard 20 gauge vitrectomy

Methods: This prospective comparative study was conducted in Department of Vitreoretinal Surgery, Al Ehsan Eye Hospital, Lahore from June 2016 to March 2017. It included 84 patients in total [Group-A: 42 patients underwent 23 gauge releasable suture vitrectomy; Group-B: 42 patients who underwent standard 20 gauge vitrectomy]. Pre operative and post operative best corrected visual acuity, surgical duration, pre and post operative intraocular pressure and complication profile was compared between two groups

Results: The leading cause for vitrectomy was vitreous haemorrhage. [Group-A; n=15 ;35.71%; Group-B; n=17; 40.47%]. There was statistically significant improvement in preoperative and postoperative BCVA in both groups [Group A: P-value < 0.05; Group B P-value < 0.05] but there was no significant difference in post operative BCVA between two groups at 3 months [P-value > 0.05]. Surgical time for 23G vitrectomy Group was statistically less than 20 G vitrectomy Group [51 +/-18 minutes for Group-A versus 78 +/- 13 minutes for Group-B; p-value < 0.05]. Visual analog score for pain / discomfort was also significantly less for Group-A than Group-B. There was no significant difference in intraocular pressures between the two groups

Conclusions: Releasable suture technique for small gauge vitrectomy is a safe and easily adaptable technique that has certain significant advantages over 20G absorbable suture vitrectomy

Children, adolescents and young adults of affluent smoking parents are susceptible to Nicotine dependence

Background: Smoking is increasing at an alarming rate in developing countries and most of the habitual smokers are reported starting this habit at an early age and this age group constitutes a major part of the population in Pakistan. We want to explore trends related to smoking among children, adolescents and young adults of affluent smoking parents are susceptible to nicotine dependence. It is likely that this genetic risk involves a complex interaction between multiple genes in different biologic pathways. These may include genes involved in the general aspect of dependence [e.g, genes within the dopaminergic system] and those more specific to nicotine dependence [e.g, genes encoding nicotinic acetylcholine receptors and nicotine-metabolizing enzymes]

Study Design: This was a cross sectional study

Place of Study: Punjab Medical College, Faisalabad

Duration of Study: September 2012 to March 2014

Materials and Methods: We distributed a self-reporting questionnaire to 800 medical students at Punjab Medical College Faisalabad related to the smoking trends and its determinants

Results: The prevalence of smoking was 18 percent and smoking habit was more common in students with affluent background and those living in hostels

Conclusions: Children, adolescents and young adults of affluent smoking parents are susceptible to nicotine dependence. Surveillance by the parent is crucial in preventing and controlling smoking in young adults

unusual diagnosis for persistent diarrhoea and vomiting

Identifying the etiology of chronic diarrhoea might be challenging in some patients, and before a diagnosis is made these patients may spend a sulostantial length of time with unresolved symptoms leading to uncertainty and anxiety that is severely impairing their life quality. A 45-year-old female was referred by her general practitioner with a 5-year history of increasingly frequent episodes of cyclical diarrhoea, vomiting, abdominal pain and intermittent palpitations. Contrast CT Abdomen/Pelvis revealed a 36x33x46 mm mass in the aorto caval region of her retro-peritoneum, just above the bifurcation. On the basis of her symptoms, CT findings and an elevated plasma metanephrine level of 2314pmol/L [normal range 80 - 510pmol/L], it was at this point a likely diagnosis of a Phaeochromocytoma was made. The retroperitoneal mass was successfully resected, and the histology confirmed a phaeochromocytoma. Her symptoms rapidly improved and she made a good recovery. This unusual case highlights some of the dilemmas that arise when investigating patients with chronic and recurrent diarrhoea and vomiting

Clinical outcome of 23g trans-conjunctival pars plana vitrectomy: a prospective comparison of phaco-vitrectomy with only vitrectomy in phakic eyes

Objective: To evaluate the effectiveness and safety profile of combined phacoemulsification with 23G parstona vftrectomy when compared to pars plana vitrectomy alone in phakic patients

Methods: This study was performed at Al-Ehsan Eye Hospital [tertiary care eye hospital in Lahore, Pakistan] from January 2016 to August 2016. A total of 40 eyes in two equal groups of 20 eyes each, were enrolled in this prospective study. Group-A underwent combined phaco-vitrectomy, whereas Group-B underwent vitrectomy only for various vitreoretinal pathologies. We evaluated the safety of combined surgery, intra-operative and postoperative complications and short term surgical outcome

Results: The most common reason for vitreoretinal intervention was rhegmatogenous retinal detachment followed by vitreous haemorrhage in combined study population

There was statistically significant difference in best corrected visual acuity pre-operatively and post operatively within the groups and between the groups. The most significant immediate post operative observation in Group-A was enhanced anterior chamber inflammation as compared to Group-B, whereas most signification observation in Group-B was development of visually significant cataract [35%] at 6 months follow-up. There was no other significant sequel or complication difference between both groups

Conclusions: Combined phaco-vitrectomy is a safe and effective procedure with minimum complication profile and it avoids the need of subsequent cataract surgery

Hereditary tyrosinemia Type I, presentation in a two month old

Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood

Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disorders, Hepatic and renal insufficiency and corneal depositions. It can be managed by the timely use of medication and dietary plan and fatality can be avoided if the disease is picked up in its earlier stages. We report a case of a 2-month-old baby with signs, symptoms and lab diagnosis suggestive of hereditary tyrosinemia

The case is discussed along with the drawbacks in our setup such as genetic testing and special tests required for a timely diagnosis for most metabolic disorders including neonatal liver disease such as hereditary tyrosinemia

Surgical outcome of scleral buckling versus pars plana vitrectomy in primary pseudophakic rhegmatogenous retinal ditachment

Objective: to evaluate anatomical and visual outcome of scleral buckling surgery versus pars plana vitrectomy in pseudophakic patients with rhegmatogenous retinal detachment

Material and Methods: sixty patients having rhegmatogenous retinal detachment, fulfilling inclusion and exclusion criteria were recruited for study. The patients were divided randomly in two groups of thirty patients each. In group [A] 30 patients underwent conventional scleral buckling and in group [B], 30 patients with retinal detachment had pars plana vitrectomy done. Almost all patients were having macula off, with history of decreased visual acuity ranging between one week to eight weeks. The patients with grade C proliferative vitreo-retinopathy [PVR], previous scleral buckling / vitrectomy, posterior vitreous detachment and pseudophakic with posterior capsular rupture were also excluded. After detailed preoperative assessment and surgical plan, standard scleral buckling procedure including encircling and local explants with cryo-therapy, was used to repair all primary rhegmatogenous detachments in group A. Sub-retinal fluid [SRF] drainage was performed, as needed. In group B, 20G pars plana vitrectomy was performed in all pseudophakic retinal detachments. All the per-operative and postoperative complications were recorded. The outcome measures of study were visual outcome and anatomical status of retina, after retinal re-attachment surgery. The patients were followed at least six months after surgery regarding, visual acuity, intra-ocular pressure, retinal re-attachment

Results: thirty eyes in group A were treated by scleral buckling and cryotherapy, while 30 eyes in group B were managed by primary pars plan a vitrectomy. All retinal detachments were macula off, with grade A or B, PVR. Anatomical success rate in Scleral buckling group was 86.66 % and 13.33 % patients had re-detachment, so pars plana vitrectomy was performed. One patient was managed with intra-vitreal SF6 gas injection and 360 degree laser barrage. Anatomical success rate in pars plana vitrectomy group was 90 %, while 10 % patients were managed by second surgery. No significant complication was noted in both types of surgeries

Conclusion: pseudophakic rhegmatogenous retinal detachments can be managed effectively by pars plana vitrectomy and scleral buckling, with comparable visual and anatomical outcome

Patterns of depression, anxiety symptoms and coping styles among early and late adolescent students

To compare the depression, anxiety symptoms and coping styles among early and late adolescent students. Cross-sectional. Study was carried out at University of the Punjab, Lahore from 17 February to 31[st] August 2010. A purposive sample of 600 students [boys=300; girls=300] was divided into two age groups; early adolescents [13-15 years] and late adolescents [16-18 years]. Participatns were administered beck anxiety inventory, beck depression inventory-II and coping strategies questionnaire. Data was analyzed on SPSS 14 version using independent sample t test. The overall results of the study indicated that early adolescents exhibit more depression and anxiety symptoms as compared to the late adolescents. Morevoer, early and late adolescents each attempt to cope with stressors in a variety of ways as active practical coping styles were more utilized by late adolescents. On the other hand, religious focused and avoidance focused coping styles were mostly used by the early adolescents. Besides, there was no significant group difference on active distractive coping styles. The current study revealed that significant changes during adolescence may affect adaptive processes and have implications for intervention efforts aimed to reduce the negative effects of stress during this period. The findings also suggest early and late adolescents each attempt to cope with stressors in a variety of ways that become more diverse and adaptive with development throuth the adolescent years

Frequency of prostate cancer in patients undergoing trans-urethral resection of prostate [TURP] for clinically benign symptomatic enlarged prostate

To determine the frequency of carcinoma prostate in patients undergoing trans-urethral resection of prostate [TURP] for clinically benign symptomatic enlarged prostate. A descriptive study including all patients who had the clinical symptoms of BPH and operated with TURP in the RMI was designed. The study spanned from June 2009 to June 2010. Patients' data, clinical history, examination and operation notes were saved in a file. All the patients were properly evaluated by the team comprising of the authors pre-operatively. On the basis of these evaluations, a malignancy was not anticipated. All the patients were operated using TURP by the same team under spinal anesthesia. Prostate chippings collected at TURP from each patient were sent as routine, for histopathological evaluation and reporting. Majority of patients [n=44, 66.7%] were older than 60 years. Patients' ages ranged from 48 to 100 years with a mean of 69.5 years. Out of all the patients in this study, 9 patients [13.6%] presented with acute urinary retention and 57 patients [86.4%] presented with Lower Urinary Tract Symptoms [LUTS] and chronic urinary retention. In 9 patients [13.6%] malignancy of the prostate on histopathological examination was confirmed with 8/9 having definitive adeno-carcinoma. Two patients had Gleason score 6/10 and 6 patients had Gleason score 8/10] of the prostate while 1/9 had carcinoma in situ. Out of the 9 patients with malignancy 8 patients [88.9%] were more than 60 years of age ``while 1 patient [11.11%] was aged 56 years. The substantial proportion of patients with confirmed PCA in patients undergoing TURP for clinically symptomatic benign enlarged prostate emphasizes the need for early diagnosis through histopathological examination

Identification of relationship of self image with anxiety and depression among college girls of Lahore, Pakistan

This study aims to identify the relationship of self image with anxiety and depression among college girls of Lahore, Pakistan. A Correlation Research Design. Lahore City, during September 2008 to March 2009. Through purposive sampling, 875 college girls were participated in this study. Offer's Self Image Questionnaire [OSIQ] was used to assess the level of self image and Symptom Check List Revised to assess both anxiety and depression. All the data was collected in groups and Pearson Product Moment Correlation Coefficient was computed to analyze the results. Results showed that out of a total of eleven subscales of OSIQ there was a strong positive correlation of both anxiety and depression on five subscales: Morals [S5]; Family Relationships [S7] Mastery of External World [S8]; Emotional Health [S10]; Superior Adjustment [Sll]. However, there was a negative relationship of both anxiety and depression with three subscales: Impulse Control [SI]; Emotional Tone [S2]; Body Image [S3], while Social Relationships [S4] found to be negatively related only with anxiety. Moreover, there was no significant relationship of Vocational/ Educational goals [S9] and Idealism [SI 2] with anxiety and depression. In the light of the present findings, preventive educational programs can be designed and introduced in the educational institutions stressing the importance of development of positive self image and focusing upon the development of positive mental health among females

Psychosocial factors associated with symptoms of depression and anxiety following acute myocardial infarction

To study factors associated with symptoms of depression and/or anxiety following acute myocardial infarction [AMI]. This Cross-sectional analytical, non-interventional, hospital based study was carried out at Punjab Institute of Cardiology [P.I.C] and Services Hospital, Lahore. One hundred consecutive inpatients with AMI diagnosed using WHO criteria, with the age range of 30-60 years [who were without physical complications] were included in the study. The Urdu version of Hospital Anxiety and Depression Scale [HADS] was administered to each patient during the period of 5-7 days following AMI. A semi structured clinical interview was also conducted which included demographic information, psychiatric assessment and risk factors related to AMI especially psychosocial factors. Results were analyzed using Statistical Package for Social Sciences [SPSS]. Out of 100 subjects, 80 [80%] were males and 20 [20%] were females. The age range was between 30-60 years [50.92 +/- 8.53]. Over all, symptoms of depression and/or anxiety were found in 50 [50%] patients. More particularly, symptoms of depression were found in 14%, symptoms of anxiety in 18%, and mixed symptoms [depression and anxiety] in 18% of the patients. A significant association was found between symptoms of depression and/or anxiety following AMI and family history of AMI [p < .007], type A behavior traits [p < .001], job stress [p < .01] and lack of confiding relationships [p < .002]. However, no significant association was found between symptoms of depression and/or anxiety following AMI and past history of AMI. The findings highlight the critical need to assess symptoms of depression and/or anxiety following AMI along with the factors leading to these. This would be particularly important in patients who have a family history of MI, job related stress, lack of confiding relationships and type A behavior traits

Cystic hygroma-an unusual cause of induced abortion

A male infant was diagnosed prenatally at 20 weeks of gestation with posterior cervical cystic hygroma. The mother was a 31-year-old gravida, who had an otherwise normal systemic examination. A therapeutic abortion was arranged and fetus was aborted. Sonographic findings were confirmed on examination of aborted fetus

Current radiologic interventions in hepatocelluar carcinoma

With the rising incidence of chronic liver disease caused by viral hepatitis, hepatocellular carcinoma is showing a corresponding rise worldwide. Surgery remains the mainstay of treatment, but patients unfit for surgery or liver transplantation form the bulk of those presenting with this disease. Palliative treatments are being used to treat those and radiological modalities form the mainstay of the treatment. Radiology plays a major role in the diagnosis, treatment and follow-up of hepatocellular carcinoma. Current radiological treatment modalities include percutaneous ethanol ablation, radiofrequency ablation and trans-arterial chemoembolization. This update highlights the recent advancements in the field and compares their relative merits and demerits

Internet information on orthopedic poliomyelitis: commercialization and lack of quality control

The effectiveness of the internet as a source of orthopaedic poliomyelitis information was analyzed. Six of the most commonly used search engines were utilized for searching for the key word poliomyelitis. Matches were classified by information type, providers, relevance to medical professionals or to patients and commercial orientation. The websites contained 58% information aimed for use by physicians and other medical professionals, while 38% was related to patient information. Thirty eight percent of the web pages were provided by companies and 12% of the web pages were commercially oriented with specific information and advertisements relating to goods and services. Notably, the majority of websites contained advertisements pertaining to goods and services provided by companies. Hence, the World Wide Web has increasingly become a medium for commerce and advertisement and companies have become the leading source of information on the web. Specialized reference servers such as Pub Med and Med-line are the best source for the search of peer reviewed articles. There is an increasing need for establishment of consensus quality control criteria including authorship, attribution, disclosure and currency for internet healthcare publications and the regulation of medical information on the internet