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Background: Tobacco smoking poses a great threat to the healthcare system both in developed and developing countries due to its health hazard. Healthcare professionals and in particular physicians can play an effective role in encouraging people to quit smoking which will ultimately improve the overall health of their patients and hence prolong their lives., Subjects and Methods: Data were collected from physicians from public and private hospitals that included Aga khan Health Services in Gilgit, Ghizer, and Hunza, District health quarter Hospitals in Gilgit, Hunza, and Ghizer, Sehat foundation between 1 December, 2021, and 30 May, 2022. A precoded questionnaire was filled which assessed the knowledge, attitude, practices, beliefs, and confidence of physicians in smoking cessation., Results: The mean age of physicians was 35.4 ± 9.11 years, of which 64.7% (n = 66) were males and 10.8% (n = 11) were current smokers. 23.5% (n = 24) of physicians had received formal training on smoking cessation ( P value 0.002). 55.5% (n = 57) were unsure that Bupropion helps in quitting smoking and only 23.5% (n = 24) reported that they are very well prepared for counselling, whereas 42.2% (n = 44) were unsure how to assess smoker's different stages of readiness to quit., Conclusion: We concluded that physicians of Gilgit Baltistan have sound knowledge about the adverse effects of smoking, but they are not confident in prescribing medication due to unaware of different methods of treatment available for smoking cessation., Competing Interests: There are no conflicts of interest., (Copyright: © 2024 Journal of Family Medicine and Primary Care.)

Objective: To determine the frequency of domestic violence in pregnancy and its adverse maternal outcomes among Pakistani women., Material and Methods: This was a prospective descriptive longitudinal study conducted at the Department of Obstetrics & Gynecology of Jinnah Postgraduate Medical Center, Karachi from October 2021 to March 2022. The questionnaire was filled during an interview. First part included demographic profile, second part comprised of 5 items with 'yes' or 'no' options. Any positive answer meant woman was subjected to abuse. Adverse maternal outcome was also assessed., Results: Out of a total of 105 pregnant women, 43(41%) women suffered domestic violence. Verbal or emotional violence (39%) was the most common type of violence. In our study, anemia (71.4%) was the most common complication. Preterm labor (63.8%) was the second on the list. was significantly associated with domestic violence (P-value<0.05). Educational status, employment status, substance abuse, and household monthly income of spouse had a significant association (P-value<0.05) with domestic violence., Conclusion: Our study shows that high frequency of violence at the time of pregnancy is related to negative maternal outcomes. Women should be screened for violence and support services for such women should be provided in the country., Competing Interests: None declared., (© 2023 Shahmir SH et al.)

Introduction: The emergence of resistance is a major public health and clinical issue, particularly in pathogens causing nosocomial infections. Recently, there is the emergence of Pseudomonas aeruginosa resistance to different broad-spectrum antibiotics., Methodology: The current study was designed to find out the prevalence of multi-drug resistant (MDR) P. aeruginosa in burn patients, the antibiotic susceptibility pattern of MDR Pseudomonas, and to determine the Minimum Inhibitory Concentration (MIC) of the effective antimicrobials. The assessment of virulence genes (exoT, exoS, exoY and exoU) was also achieved through PCR. In the current study wound swabs were collected from 160 burn patients from two burn units (MTI-Govt. Lady Reading Hospital and MTI-Khyber Teaching Hospital)., Results: Out of these 160 samples, 26 samples (16.25%) were positive for P. aeruginosa. Per patients, one isolate was included in the current study. Antibiotic susceptibility pattern showed all P. aeruginosa isolates were 100% resistant to amoxicillin-clavulanic acid, 84.62% resistance to Cefepime, and Ceftazidime, and 76.92% resistance to Amikacin, Aztreonam, and Ciprofloxacin. Whereas the lowest resistance was observed to Imipenem and Piperacillin-Tazobactam (53.85%), Colistin Sulfate (23.08%), and Polymyxin-B (15.38%). Regarding the prevalence of MDR, 22 (84.61%) isolates out of 26 were found to be MDR-P. aeruginosa. For MDR-P. aeruginosa, the MIC range was 1-2 µg/mL against Polymyxin-B, 2-8 µg/mL against Colistin sulfate, 16-1024 µg/mL against Imipenem and 128-1024 µg/mL against Piperacillin-Tazobactam. 100% of the isolates carried exoT, 88.46% carried exoY, and 57.69% and 38.46% carried exoU and exoS, respectively., Conclusions: These findings further emphasize the need for antibiotic discipline and to follow the recommended hospital antibiotic policy to prevent the proliferation of MDR strains of P. aeruginosa in the community., Competing Interests: No Conflict of Interest is declared, (Copyright (c) 2023 Rooh Ullah, Mishal Amir, Samiaa Anjum, Mati Ur Rehman, Tarique Noorul Hasan, Syed Sajjad Naqvi, Rani Faryal, Hamid Ali Khan, Bibi Khadija, Narmeen Arshad, Zubia Rashid, Muhammad Yousaf, Muhammad Ammad, Kanwal Mazhar.)

Background: Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic., Methods: To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES) were performed., Results: Cytogenetic abnormalities, including a high frequency of sex chromosomal anomalies (85.4%), explained the phenotype in 30.9% (51/165) of the cohort. Sanger sequencing of candidate genes identified a novel pathogenic variant in the SRY gene in a patient with 46,XY gonadal dysgenesis. An exome screen of a sub-group of 44 patients with 46,XY DSD revealed pathogenic or likely pathogenic variants in 38.6% (17/44) of patients., Conclusion: Rare or novel pathogenic variants were identified in the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data indicate a genetic diagnosis rate of 41.2% (68/165) in the group of 46,XY DSD., (© 2023. The Author(s).)

Purpose of Research: The aim of the current study was gut profiling of culturable Candida species and their possible pathogenic potential to asses role in obesity., Methods: This case control study includes stool samples from 75 obese individuals and 50 controls. Isolation and identification of various Candida species was carried out by standard microbiological techniques. For pathogenic profiling, extracellular enzymatic assays, biofilm forming ability and resistance to azole were analyzed., Results: Culturable gut profiling identified comparative higher abundance and diversity of Candida species among obese compared to controls. The most abundant specie among both groups was C.kefyr. A comparatively higher pathogenic potential as more hydrolases expression was detected in C.kefyr, C.albicans and Teunomyces krusei from obese group. Majority isolates from obese group were strong biofilm formers (47.1%) compared to control group (35.4%) suggesting it as strong risk factor for obesity. Fluconazole resistance was highest among C.kefyr (51%) followed by Teunomyces krusei and C.albicans. All the isolates from different species were voriconazole sensitive except C.kefyr displaying a 4.2% resistance in obese group only. A significant association of dominant colonizing species with meat, fruit/vegetable consumption and residence area was present (p < 0.05)., Conclusion: The presence of hydrolytic enzymes in gut Candida species showed strong association with protein's degradation and enhanced pathogenicity. C.kefyr and Teunomyces krusei has emerged as potential pathogen showing increased colonization as result of protein rich and low carb diet. Thus presenting it as a bad choice for weight loss in obese individuals., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Professor Dr. Rani Faryal reports was provided by Quaid-i-Azam University. Professor Dr. Rani Faryal reports a relationship with Quaid-i-Azam University that includes: employment, non-financial support, and speaking and lecture fees. N/A., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background: Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects, and significant craniofacial dysmorphism. In this study, we present a molecular cytogenetic analysis of 2 Tunisian patients with corpus callosum malformations. Patient 1 was a boy of 3 years old who presented psychomotor retardation, microcephaly, behavioral problems, interventricular septal defect, moderate pulmonary stenosis, hypospadias, and total CCA associated with delayed encephalic myelination. Patient 2 was a boy of 9 months. He presented a facial dysmorphia, a psychomotor retardation, an axial hypotonia, a quadri pyramidal syndrome, a micropenis, and HCC associated with decreased volume of the periventricular white matter. Both the array comparative genomic hybridization and fluorescence in situ hybridization techniques were used., Results: Array CGH analysis reveals that patient 1 had the greater deletion size (11,7 Mb) at 1q43. The same region harbors a 2,7 Mb deletion in patient 2. Here, we notice that the larger the deletion, the more genes are likely to be involved, and the more severe the phenotype is likely to be. In both patients, the commonly deleted region includes six genes: PLD5, AKT3, ZNF238, HNRNPU, SDCCAG8 and CEP170. Based on the role of the ZNF238 gene in neuronal proliferation, migration, and cortex development, we hypothesized that the common deletion of ZNF238 in both patients seems to be the most responsible for corpus callosum malformations. Its absence may directly cause CCM. In addition, due to their high expression in the brain, PLD5 and FMN2 could modulate in the CCM phenotype., Conclusion: Our findings support and improve the complex genotype-phenotype correlations previously reported in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of several genes related to this pathology., (© 2022. The Author(s).)

The present study investigates the dysbiosis in salivary bacterial diversity by culture-dependent and independent methods. Culturable aerobic and facultative anaerobic bacterial diversity was studied in saliva collected from 267 postpartum and 54 nonpregnant females by using standard microbiological methods. For unculturable bacterial diversity, DNA from saliva samples of four selected females was sequenced by targeting V4 region of 16S rRNA. In postpartum females, S. mutans was significantly more prevalent. Its colonization was also seen significant among females having gingivitis ( P  < 0.01), dental caries ( P  < 0.01), and in those giving birth to low weight baby. In postpartum group, 65.16% females were culture positive for Staphylococcus , 12.73% Gram positive rods, 10.48% N. meningitides , 6.36% K. pneumoniae , 5.61% Enterobacter species and 2.62% E. coli . Isolates showed high biofilm forming ability and antibiotic resistance. Upon analysis of unculturable bacterial diversity, a total of 16 phyla and 156 genera were observed. Alpha diversity was decrease in postpartum female having oral health issues with pre-term low weight birth, compared to females with full term birth. Bray-Curtis dissimilarity was highest between female with dental issues and different pregnancy outcomes. Bacterial diversity and abundance altered among females with different oral health conditions and pregnancy outcomes, and also have pathogenic potential., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 The Author(s). Published by Elsevier B.V.)

Despite of known pathogenic potential of human mycobiome in initiation and progression of oral disorders, it is poorly characterized and understudied due to its small number in oral cavity. In the present study, salivary mycobiome of three postpartum females along with one healthy non-pregnant female was investigated by targeting ITS region. A total of 55 genera and 92 species were detected with predominant genera: Candida (12.2%) followed by Saccharomyces (9.27%), Phialosimplex (9.19%), Termitomyces (6.96%), Penicillium (6.85%), Aspergillus (6.56%), Olpidium (5.15%), Cochliobolus (4.78%), Malassezia (4.61%), Neurospora (4.3%), and Cristinia (3.04%) in all samples. Diversity increase was observed in postpartum group as compared to non-pregnant female. Stachybotrys, Geotrichum, Talaromyces, Leucosporidium, Acremonium, Wallemia, Eupenicillium, Septoria, Zymoseptoria, Coniosporium, Phialophora, and Mycosphaerella were genera detected only in postpartum group. Postpartum female with gingivitis and dental caries showed greater abundance of genus Saccharomyces, Phialosimplex, Candida, Olpidium, Cochliobolus, Malaseezia, Hyphodontia, Debaryomyces, Mrakia, and Nakaseomyces as compared to those postpartum females with good oral health. Among postpartum group female with oral health issues as well as who had preterm low weight birth (PLWB), showed reduced richness, evenness with elevated levels of Saccharomyces, Candida, Hyphodontia and Malassezia compared to the female having full term birth (FTB). These findings showed that, pregnancy with or without oral health issues is associated with oral microbial diversity change and there might be an association of changing fungal diversity with adverse pregnancy outcomes (APOs) like pre-term birth (PTB) and low weight birth (LWB)., (Copyright © 2020. Published by Elsevier Masson SAS.)

Objective: The aim of the current study was to investigate pathogenic Candida spp. Colonization in oral cavity of postpartum females and its association with adverse pregnancy outcomes (APOs) and dental issues., Methods: Saliva samples and clinico-demographic data were collected from 267 postpartum females along with 54 non-pregnant females (Jan 2016-March 2018). Isolation of Candida was carried out by using standard microbiological methods and different virulence factors (Esterase activity, phospholipase activity and biofilm formation) were evaluated., Results: Candidacolonization was high in postpartum females (p<0.001, OR = 4.28). This colonization was not significant among females with APOs, however, one to three folds risk was seen with different obstetric and dental factors. High esterase activity was seen among Candida isolates from postpartum females in comparison to control group (p = 0.01). Phospholipase activity of C.albicans isolates from this group was also high (p = 0.001). Majority of the Candida isolates (66.87%) from postpartum females were biofilm formers. Increase in antifungal activity was seen among isolates from postpartum females, with 85% isolates resistant to Fluconazole and Voriconazole (p<0.001) and Amphotericin B resistance was present in 64.38% isolates (p<0.001)., Conclusion: Postpartum females are more susceptible to oral Candida colonization, which exhibit enhanced virulence characteristics and its carriage are associated with increased risk for development of APOs and dental problems., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Background: Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable., Objective: To study the long-term outcome of PCD in Tunisian children with ciliary ultra-structure defects detected by electron microscope., Methods: Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD (other ciliary ultra-structure defects). The clinical data and the investigations made were registered at diagnosis and during the follow-up., Results: Patients with a definite PCD (G1, n=7) were diagnosed earlier compared to those with a presumed PCD (G2, n=13) (2.5 vs. 9.3 years on average). At diagnosis, bronchiectasis was more frequent in G1 (3/7 vs. 4/13). The inner DA loss was constant in G1 and predominant in G2. The treatment adhesion was more often irregular in G2 (2/7 vs. 8/13). During a mean follow-up of 11 years, G1 showed less severe outcome (clubbing (0 vs. 3), bronchiectasis (3 vs. 11; more expanded in G2), proximal and distal airway obstruction (0/3 vs. 5/7), lobectomy (0 vs. 2), and death (0 vs. 2))., Conclusion: Precocious diagnosis and regular treatment may enhance the PCD prognosis.

Pancreatic heterotopias (HP) are rare. They can occur at any age with a slight male predominance. These lesions are usually asymptomatic and they are often found incidentally during upper or lower GI endoscopy or during the anatomo-pathological examination of an organ which was resected for other reasons; they can be isolated or associated with a digestive pathology. We report, through observation, the association of HP with serous cystadenoma of the pancreas discovered during examinations to identify the etiology of isolated abdominal pain. The aim of this study is to analyse clinical and histological features of this rare pathology.

Isolated peritoneal metastases of lung adenocarcinoma are very rare, even exceptional, occurring most often in the context of a multi-metastatic disease. This report presents a rare clinical case of isolated peritoneal metastasis from lung adenocarcinoma. We report a 56-year-old male who was monitored for lung adenocarcinoma whose evolution has been marked by an isolated metastatic recurrence in the peritoneum objectified by an abdominal-pelvic computed tomography (CT) and confirmed by a laparoscopy with abiopsy of the peritoneal nodules. The patient had received palliative chemotherapy with gemcitabine, cisplatin and bevacizumab. The evolution was marked by a progressive deterioration of the general condition and death two months after the third treatment cycle. Peritoneal carcinomatosis from lung adenocarcinoma is a very rare event, and is often associated with a poor prognosis.

Cutaneous leishmaniasis (CL) has been recently emerged in new foci, posing a public health problem. Increasing cases of CL have been reported during recent years in Sefrou province, a previously non-endemic area. The present study was designed for epidemiological and parasitological characterization of the disease for the first time in this area. The results of a retrospective analysis of CL cases reports, between 2000 and 2011 showed that the incidence was estimated to 463/100,000 inhabitants/year, with a total of 1242 cases were notified from 1997 to 2011. Most patients were infected in the sector El Menzel (22.81%) and Sefrou (20.51%). Other cases have been reported in the 15 other sectors, reflecting the geographical spread of the disease. The highest rate lesions were found in the age group of 9 years or less with significant differences (p-value<2.2e-16) comparing to the older age groups. The most affected lesion was localized in the face (64%). The average number of lesions per patient was 2.35 with a maximum of 5 lesions. The clinical aspects of lesions were mostly crusted. The causative agents of CL in this province were identified as the coexistence of L. tropica and L. infantum by species-specific ITS1-PCR-RFLP assay. CL remains an emergent disease in Sefrou with an incidence and a continuously geographical spread. Recent environmental changes, auspicious to vectors had probably contributed to that situation., (Copyright © 2013. Published by Elsevier B.V.)

Introduction: Primary fallopian tube carcinoma are extremely rare and are most commonly of serous or endometrioid type. Primary squamous cell carcinomas are exceptional with only three cases reported in the English literature., Materials and Methods: We present the case of a 43-year-old woman operated for cervical carcinoma., Results: Histologic examination, showed a squamous cell carcinoma of cervix with post operative discovery of a concomitant microinvasive squamous carcinoma of fallopian tube developing on high grade dysplasia and in situ carcinoma lesions., Conclusion: Clinico-pathological features of fallopian tube carcinoma, in general, and squamous carcinoma, in particular, will be discussed.

Background: Renal epithelioid angiomyolipoma is a recently recognized variant of angiomyolipoma, closely simulating renal cell carcinoma both clinically and histologically. Only a relatively small number of cases of epithelioid angiomyolipoma of the kidney have been reported., Aim: To highlight clinicopathological features of this rare tumour., Observation: We report herein a new case of renal epithelioid angiomyolipoma in a 38-year-old male with no stigmata of tuberous sclerosis. The tumour was composed of diffuse sheets of epithelioid cells, small numbers of adipocytes and occasional blood vessels. Immunohistochemically, neoplastic cells were immunoreactive for HMB-45, but negative for cytokeratin. The patient showed no evidence of recurrence or metastatic disease one year after radical nephrectomy., Conclusions: Epithelioid angiomyolipoma may be locally aggressive and can metastasise; therefore, long-term post-operative follow-up is mandatory.

Unlabelled: Gastrointestinal stromal tumor (GIST) is a new distinct entity defined as CDI 17 or c-kit positive mesenchymal tumors, originaling in gastrointestinal pacemaker cells known as interstitial cells of Cajal. This study evaluate the percentage of GIST previously diagnosed as mesenchymal tumors in our hospital during 11 years., Methods: A total of 30 surgically resected gastrointestinal tumor specimens were collected from January 1990 to December 2000 in the pathology laboratory of la Rabta Jospital. Immunohistochemical studies were performed on these tumors with antibodies of CD 117, smooth muscle actin (SMA) and protein S-100., Results: Among the 30 tumors, 26 (86.6%) were CD117 positive and were classified as gastrointestinal stromal tumors. Among the 26 GIST, SMA was positive in 11 tumors (42.3%), 6 tumors (23%) expressed protein S-100. The 4 tumors classified as non-GIST were leiomyomas with the following immunohistochemical characteristics: CD117-negative with strong SMA-positive and protein S100 negative status., Conclusions: The majority (86.6%) of mesenchymal gastrointestinal tumors were GIST, except for a smalls groups of smooth muscle tumors.

Granulocytic sarcoma is a form of extramedullary leukaemia. The intraparenchymal localisation is extremely rare. We report a case of cerebellar granulocytic sarcoma occuring in a 43 years old woman without any precedent medical history. The diagnosis of granulocytic sarcoma was established by neoplastic cells findings through morphological and immunohistochemical studies. The patient died few days after surgery. There are still no conclusive treatment strategies for this entity; however, early antileukemic chemotherapy seems to lower the probability of developing systemic disease and thus prolong survival.

Cerebellar liponeurocytoma has recently been recognised by the 2000 World Health Organisation classification of tumours of the central nervous system as a distinct clinicopathologic entity. To our knowledge, 18 cases have been reported so far, under different names, such as "lipomatous medulloblastoma, lipidized medulloblastoma, neurolipocytoma, medullocytoma and lipomatous glioneurocytoma". The new classification included cerebellar liponeurocytoma in the category of glioneuronal tumours grade I or II because of its favourable clinical behaviour. The origin and nature of the lipomatous component have been matter of debate and make this tumour entity puzzling. We describe a new case of liponeurocytoma removed from the left cerebellar hemisphere of a 38-year-old-woman. The patient showed unspecific signs of intracranial hypertension and symptoms suggesting a posterior fossa lesion.