A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms / 亚洲男科学杂志(英文版)

Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.

Assessment of killing kinetics assay and bactericidal mechanism of crude methanolic bark extract of Casuarina equisetifolia

Casuarina equisetifolia L. is an important medicinal plant widely used to treat various diseases particularly ulcers, diabetes, cough, diarrhea and many infectious and skin diseases. The aim of this research study was to examine the killing mechanism and killing kinetics assay of methanolic bark extract of C. equisetifolia against some highly resistant human pathogens. The comparison on antibacterial activity of extract was firstly done with six different well reputed antibiotics using disk diffusion method. The broth dilution method was used to measure the MIC and MBC values. The mechanism of killing was identified by scanning electron microscopy [SEM] technique. Results showed that higher inhibitory zones were produced by methanolic plant extract than that of some tested antibiotics. The lower MIC and MBC values indicated the antibacterial potency of plant extract. The extract of C. equisetifolia produced a more drop in optical density of S. aureus, MRSA B. subtilis and S. epidermidis up to 12 hrs. The complete destruction of the cell membrane of MRSA was observed after 12 h treatment with plant extract. It is concluded that crude bark extract of C. equisetifolia is potent antimicrobial agent and produced both bacteriostatic and bactericidal effects. Its killing time was extremely faster especially against MRSA. The cell membrane rapturing is a suggested killing mechanism of plant extract

Accuracy of Ca-125 concentration as predictor of peritoneal dissemination of colo-rectal carcinoma

Objective: To determine the association of CA-125 levels with the peritoneal dissemination among the patients of colo-rectal carcinoma at a tertiary care surgical oncology unit of Pakistan

Study Design: Observational study

Place and Duration of Study: Department of Surgical Oncology, Combined Military Hospital Rawalpindi. Duration of ten months, from Jan 2018 to Oct 2018

Patients and Methods: A total of 83 cases of colorectal carcinoma were included in the study, which were diagnosed by consultant oncologist after relevant histological and radiological investigations. Peritoneal dissemination was confirmed during the surgery. CA-125 levels were assessed before the surgery and cut off of 35U/mL was used. Relationship of age, gender, raised CA-125, tumor metastasis and tumor differentiation was assessed with the presence of peritoneal dissemination among the patients suffering from colo-rectal cancer

Results: Fifty nine patients were males and 24 were females. Mean age of the patients was 51.17 [+/-3.395]. Out of 83 patients of colo-rectal cancer, 37.3 percent showed the presence of peritoneal dissemination while 62.7 percent had no peritoneal dissemination at the time of surgery. Forty one patients had raised levels of CA-125 while 42 had levels within the normal range. After applying the logistic regression we found that raised levels of CA-125 and metastatic illness had significant association with the presence of peritoneal dissemination among the patients of colo-rectal cancer

Conclusion: CA-125 concentration emerged as a strong predictor of peritoneal dissemination of colo-rectal cancer in our study analysis. Routine checking of levels of this marker among the patients of Colon cancer may help in early recognition of the advancement of disease and help the surgical oncologists to manage it in a more effective way

Comparison of manual vaccum aspiration and sharp curettage in the treatment of first trimester abortions

To compare the safety and efficacy of manual vaccum aspiration and sharp curettage in the treatment of first trimester abortions. Randomized controlled trial. Department of gynecology, Social Security Hospital Shahdra Lahore in collaboration with Family Health Hospital Johar Town Lahore, from May 2007 to May 20102. Six hundred women admitted with the diagnosis of first trimester less than or equal to 12 weeks abortions were randomly assigned, 300 to manual vacuum aspiration [MVA] and 300 to traditional sharp curettage. Diagnosis of abortion was confirmed by last menstrual period, physical examination and ultrasonography. In total of 600 patients, 300 randomly assigned to MVA and another 300 patients assigned to sharp curettage managemet were having mean age of 31.8 and 33 yrs respectively. mean parity was in both groups, mean gestational age 8.9 and 8.2 weeks, mean duration of procedure was 6.4 and 5.8 minutes, duration of hospital stay was 4 and 40 hrs, missed abortion in 47% and 43% patients, incomplete abortion in 53% and 57% patients, cervical dilatation was needed in 1% against 53%, 10% against 8% experienced mild pain in both groups, no patient of incomplete evacuation against 0.6%, uterine perforation in none against 0.3%, excessive bleeding was experienced by 0.3% against 0.6% patients in both groups, and patient satisfaction rate was 99% against 99.4% in the two groups respectively. in the management of first trimester pregnancy loss, MVA offers a quick solution to the problem with reduced hospital stay and lower rate of complications

Accuracy of Pederson and modified Parant scale for predicting difficulty level of mandibular third molars

To determine the accuracy of Pederson and Parant Scale for predicting the difficulty level of mandibular third molar extraction. Prospective cross-sectional, 6 months from January 2012 to June 2012. All consecutive patients who presented for the extraction of impacted third molars were included in the study. Orthopantomograms (OPGs) were advised and on these OPGs third molars were classified as easy, moderate or difficult according to standard Pederson scale. Similarly modified Parant scale was utilized to predict the difficulty of removal of third molars. Root pattern was also noted on the OPG. These parameters were then compared with peri-operative parameters like time taken for extraction and need for crown or root sectioning using Chi Square test. A p value of 0.05) while significant results were obtained in case of Parant Scale (p value<0.05). Statistically significant results were seen for root pattern and level of difficulty (p value<0.05). These scales failed to predict difficulty level of tooth removal accurately especially in cases of distoangular impactions. When combined with root pattern, the accuracy of prediction gets significantly better.

Frequency of steroid contamination in drugs prescribed by quacks in Rawalpindi

To determine the frequency of contamination of steroids in drugs prescribed by quacks, being used by patients in Rawalpindi. Cross- sectional study. Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology Rawalpindi, from June 2010 to March 2011. One hundred and seventy eight drugs distributed by quacks in Rawalpindi were collected from the patients. Quackery formulations [QF] were analyzed by thin layer chromatography on fluorescent Aluminum silica plates by using mobile phase of methylene chloride: ether: methanol: water [77:15:8:1.2] and relative flow of spots were noted. Samples positive for steroids were confirmed by high performance liquid chromatography. Out of In total of 178 samples, 125 [70.2%] were received by patients from unregistered hakeems, 29 [16.3%] unregistered homeopaths and 24 [13%] directly from nonmedical shopkeepers, prescribed for in joint pains 84 [47%], generalized weakness 43 [24%], dermatitis 28 [16%], gastrointestinal diseases 12 [7%] and respiratory diseases 11 [6%]. Out of 178 samples, 38 [21%] QF were contaminated with steroids found in 18 [48%] tablets, 10 [26%] powders, 5 [13%] creams, 3 [8%] capsules and 2 [5%] syrups. Out of 38 Steroid contaminated QFs 20 [53%] countrained dexamethasone, 12 [32%] prednisolone, 4 [10%] hydrocortisone and 2 [5%] betamethasone. In modern era, patients are still using drugs prescribed by quacks and 21% of QF in Rawalpindi is contaminated with steroids. The steroids comprise mainly of dexamethasone and prednisolone in adulterated tablets and powders prescribed by hakeems.

Adverse effects of low dose methotrexate in rheumatoid arthritis patients

To determine the frequency of adverse effects attributed to Methotrexate [MTX] toxicity and serum minimum toxic concentration with low dose MTX in Rheumatoid Arthritis [RA] patients. Cross-sectional observational study. Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, from March 2010 to March 2011. One hundred and forty adult patients of RA receiving low dose MTX [10 mg/week] for at least 3 months, were included by consecutive sampling. Blood samples were collected 2 hours after the oral dose of MTX. Serum alanine transaminase and creatinine were analyzed on Hitachi and blood counts on Sysmex analyzer. Serum MTX concentration was measured on TDX analyzer. Out of one hundred and forty patients; 68 males [49%] and 72 females [51%], 38 developed MTX toxicity [27%], comprising of hepatotoxicity in 12 [8.6%], nephrotoxicity in 3 [2.1%], anaemia in 8 [5.7%], leucopenia in 2 [1.4%], thrombocytopenia in 3 [2.1%], pancytopenia in 2 [1.4%], gastrointestinal adverse effects in 5 [3.6%] and mucocutaneous problems in 3 [2.1%]. Receiver operating characteristic curve revealed serum minimum toxic concentration of MTX at cutoff value of 0.71 micro mol/l with a sensitivity of 71% and specificity of 76%. Adverse effects of low dose MTX were found in 27% of RA patients, mainly comprising of hepatotoxicity and haematological problems. MTX toxicity can be detected by therapeutic drug monitoring of serum concentration of 0.71 micro mol/l with sensitivity of 71% and specificity of 76% in the patients on low dose MTX maintenance therapy

Frequency of xerostomia in patients suffering from hepatitis B and C

The objective of the study was to assess the frequency of xerostomia in patients infected with hepatitis B and C presenting to the oral and maxillofacial surgery department of Rawal Institute of Health Sciences, Islamabad from October 2011 to February 2012. It was carried out as a prospective cross sectional study. All patients who gave the history of being infected with hepatitis B or C were included in the study. They were asked about the sensation of dryness of mouth and then were clinically evaluated for the presence of xerostomia by putting a mirror against the mucosa. Sticking of mirror to the mucosa was taken as a positive result. 38 patients presented to the oral surgery department, out of these, 6 were males and 32 females [1:5.3]. Eight [21.1%] had hepatitis B while 30 [78.9%] were suffering from hepatitis C. Xerostomia was seen in 8 [26.7%] patients with hepatitis C. None of the patients with hepatitis B presented with xerostomia. Chi Square test was used to analyze the association of xerostomia with therapy for hepatitis but no statistically significant association was observed [p>0.05]. Xerostomia may be a finding in patients with chronic liver disease and treating clinicians should be aware of it and should treat it to improve patients' quality of life

Effect of suplemental oxygen on the apgar score ofnewborn given to mother undergoing elective caesariansection under spinal anesthesia

Objective: To determine the effect of supplementaloxygen on APGAR score of newborn babies, givento pregnant ladies undergoing elective lowersegment caesarian section under spinal anesthesia

Study Design: Cohort study

Place and durationof study: Combined Military hospital Rawalpindi,from Jun 2010 to Mar 2011

Methodology: Onehundred and twenty full term pregnant ladies wereenrolled by non probability consecutive sampling,who were scheduled for elective caesarian sectionunder spinal anesthesia. The patients wererandomized into two groups [A and B]. In patientsof Group A supplementation of oxygen was given tothe mothers after spinal block, while in Group B,patients were not provided with supplementaloxygen after spinal anesthesia. Cases requiringgeneral anesthesia or supplemental oxygen [in groupB] for some other reasons causing maternal hypoxiawere excluded from the study. APGAR Score at oneminute and five minute was recorded

Results: Intotal of one twenty newborns, 56 [47%] were malesand 64 [53%] females. Mean age of the pregnantladies under study was 35 + 5 in group A and 33 + 7in group B. In group A, the value of APGAR scoreat one minute varied from 6 to 10 and, at fiveminute it was from 8 to 10. While in group B, theresults of APGAR score were same without anysignificant difference [P>0.05]

Conclusion:Supplemental oxygen has no role on the APGARscore of newborns but simple psychologicalsatisfaction to some of the mothers at the cost ofwastage of oxygen while in some patients causinganxiety, so patients should be educated on thisaspect and un-necessary use of supplemental oxygenmust be avoided

Application of limulus amebocyte lysate [LAL] test for detecting endotoxin [pyrogen] in large volume parenterals

Screening of twenty five large volume parenterals including dextrose, electrolytes, mannitol, metronidazole infusions, haemodialysis solution, water for injections and distilled water for the determination of pyrogen using Limulus Amebocyte Lysate [LAL] test has been carried out. Out of different preparations only one metronidazole injection exhibited positive LAL test, which was found pyrogen free with USP rabbit pyrogen test