Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposis. Some observations suggest that these dominant mutations induce a gain-of-function effect on the channel. Here, we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with dominant mutations in PIEZO2. These siblings also displayed deficits in proprioception and touch sensation. Whole-exome sequencing performed in the three affected siblings revealed the presence of a rare homozygous variant (c.2708C>G; p.S903*) in PIEZO2. This variant is predicted to disrupt PIEZO2 function by abolishing the pore domain. Sanger sequencing confirmed that all three siblings are homozygous whereas their parents and an unaffected sibling are heterozygous for this variant. Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene.

Presentation and In-Hospital Outcome in First Attack of Acute Coronary Syndrome among Diabetic and Non-Diabetic People.

This was a prospective and observational study. One hundred and sixty five consecutive patients (75 diabetic and 90 were non-diabetic) admitted to coronary care unit in Rangpur Medical College and Hospital, Rangpur from December 2011 to June 2012 with the diagnosis of first attack of acute coronary syndrome were included in this study. Patients were selected considering the inclusion and exclusion criteria, Symptom time, typical or atypical chest pain, Dysponea, palpitation, cardiogenic shock, cardiac arrest, vital signs and Killip classes were regarded as presentation at admission. Outcome parameters observed during the hospital stay were in-hospital mortality, cardiogenic shock, congestive cardiac failure, symptomatic arrhythmias, cardiac arrest, recurrent ischemia and hospital stay. The results were obtained by calculating 'p' value by 'z' test, 't' test, chi-square test, as appropriate to see the difference between two groups. The results thus obtained were plotted on table, pie-chart, line chart, bar-diagram etc. as appropriate p value <0.05 was considered significant. In the study, diabetic patients presented with acute coronary syndrome at earlier age (p=053). Body Mass Index was significantly more in diabetic group (25.053 ± 2.1428 vs. 24.0822 kg/m² ± 2.233 kg/m², p=0.0045). Atypical chest pain (40% vs. 24.4%, p=0.0323), Dysponea (53.3 vs. 36.7%, p=0.0315), cardiac shock (17.33 vs. 6.7%, p=0.03236) and symptom duration before presentation (31.067 ± 42.5 hours vs. 19.44 ± 30.3 hours, p=0.0471) were significantly more observed in diabetic group. In respect of outcome, diabetic patients experienced more recurrent ischemia (24% vs. 16.67%, p=0.0524) and heart failure (36% vs. 22.2%, p=0.05). Hospital stay was also found significantly higher in diabetic group (5.097 ± 1.023 vs. 4.097 ± 1.009, p=0.0078). Atypically presented group suffered significantly more from congestive heart failure p=0.0392. Triglyceride level (230.7 ± 61.7 vs. 180.1 ± 39.1, p<0.001) were significantly more in diabetic group. The mean value of Hba1C in diabetic patients was 8.0278 ± 10.44965%. This study suggested that atypical chest pain, dysponea and cardiac shock were more in diabetic group at presentation. Recurrent ischemia, heart failure and hospital stay were more in diabetic group as outcome.

Attitude and Practices of Mothers on Breastfeeding Attended at a Tertiary Hospital in Bangladesh.

This descriptive cross sectional study was conducted in Pediatric Out Patient Department (OPD) of Mymensingh Medical College Hospital (MMCH) from November 2013 to April 2014 to assess the knowledge and practices of the mothers about breastfeeding. Four hundred mothers having children 6 months to 2 years of age attended at OPD of MMCH for any cause were included in the study by systematic random sampling. A structured, pre-tested, interview schedule was used to collect data from mothers. All mothers were continuing to breastfeed their children. Two hundred and seventy-two (68.00%) infants received breast feeding within 1 hour after birth, while 128(32.00%) infants received breast feeding after 1 hour of birth. Of 128, in 48(37.50%) cases, mother's illness was the reason for delay in initiation of breast feeding, whereas in 70(54.69%) cases, it was due to reduced milk production on mother's statement. Pre-lacteal feeding was given in 96(24.00%) children. Among them honey was given in 24(25.00%) cases, cow's milk was given in 14(14.58%) cases, sugar water was given in 18(18.75%) cases and formula milk was given in 40(41.67%) cases. One hundred and twenty-eight (32.00%) mothers started to give their child food other than breast milk before 3 months of age and 148(37.00) mothers started to give their child food other than breast milk before 6 months of age. The reason for starting to give their child food other than breast milk before 6 months of age was mother's assumption of milk insufficiency in 166(60.14%) cases and baby's cry for hunger in 110(39.86%) cases. Formula milk was given in 120(30.00%) infants before 6 months of age. Among them 96(80.00%) mothers prepared it with larger amount of water. Plain water was given in 240(60.00%) children before the age of 6 months. One hundred and twenty-four (31.00%) children were exclusively breastfeed for first 6 months of age. Breastfeeding is almost universal in Bangladesh but the exclusive breastfeeding rate is alarmingly very low. Great emphasis is needed to educate mothers about benefits of colostrum, exclusive breastfeeding, and the harmful effects of pre-lacteal feeding.

Knowledge and practices of mothers on childhood diarrhoea and its management attended at a tertiary hospital in bangladesh.

This descriptive cross sectional study was conducted in Pediatric out Patient Department (OPD) of Mymensingh Medical College Hospital (MMCH) from March 2014 to August 2014 to assess the knowledge and practices of the mothers in acute diarrhoeal diseases in children under-five years of age regarding use of oral rehydration solution (ORS), zinc, other drugs and feeding practices. Four hundred children under-five years of age having acute diarrhoea were included in the study by systematic random sampling. A structured, pretested, interviewer-administered questionnaire was used to collect data from mothers of children having diarrhoeal diseases. ORS was offered by 360(90.00%) of the mothers. Out of which 279(77.50%) used it by their own knowledge. One hundred and ninety-one (53.06%) mothers prepared it correctly, while 169(46.94%) prepared it incorrectly. Of 169, 129(35.83%) mothers used less amount of water, while 40(11.11%) mothers used much amount of water to prepare ORS. Of 360 mothers, 89(24.72%) mixed part of the content of ORS sachet at a time. Of 360 mothers, only 55(15.28%) offered correct amount of ORS after each purging. Zinc was offered in 142(35.50%) children. Of 400, only 13(3.25%) mothers used recommended home-based fluid, while 70(17.50%) mothers offered increased amount of fluid to their child. Drugs other than zinc and ORS were used in 247(61.75%) children. Among drugs, other than zinc and ORS, antibiotics was used in 109(44.13%) cases, whereas antiprotozoal in 97(39.27%) cases. Amount of liquid given was more than usual in 70(17.50%) children, same as usual in 57(14.25%) children and less than usual in 273(68.25%) children. Amount of food given was same as usual in 59(14.75%) children, while less than usual in 341(85.25%) children. Control of diarrhoeal diseases programme is successful in introducing ORS at mass level. Great emphasis is needed to educate mothers about preparation and quantity of ORS to be given to children with diarrhoeal diseases.

Management of Neglected Rupture of Tendoachilles with Long Gap by Flexor Hallucis Longus Tendon Transfer.

The tendo achilles is one of most important tendon in human body which often injured through direct trauma or indirect stress on a weakened tendon. Longer the duration after injury the injured parts likely to move apart, fibrosis and degeneration leading to difficulty in repair or reconstruction. Usually a phase of 4 weeks or more without specific treatment is regarded as chronic or neglected rupture. Different authors described many management protocols about the tendo achilles rupture but there is no procedure of choice for neglected rupture with long gap. Prospective case series of 21 patients of neglected tendo achilles rupture with long gap treated with flexor hallucis longus tendon (FHLT) transfer was taken for study from January 2019 to December 2020 in Mymensingh Medical College Hospital, Bangladesh. Average age of patients was 39.47 years with range 22-65 years. Fifteen (15) cases of traumatic rupture in this study with average age 32.66 years and pathologic 6 cases with average age 56.5 years were recorded. We grafted FHLT from channel by incising Henry's knot. Krackow et al.'s technique was followed for tendon mobilization and bone fixation. We made procedure simpler and cheaper; instead of using interference screw the sutured tendon pulled through the heel and anchored over rubber tube or button by Cole method. Post-operative complications were less with one patient with superficial infection which eventually recovered 3 cases of mild pain and 2 cases of numbness. Questionnaire for surgical outcome measure are satisfactory in 19 patients (90.47%). Final follow up AOFAS score at 6 month (91.61±5.41) was highly significant (p<0.001) in comparison to preoperative score (38.71±9.78). These are comparable to other study. Above mentioned scores indicate the reliability of the surgical system. But our study is a prospective case series with minimum cases. To establish the best procedure for neglected tendo achilles rupture with long gap we recommend further study with larger group and Randomized Controlled Trial (RCT) study among different procedure.

Postoperative pain relief following inguinal hernia repair in children by wound infiltration with levobupivacaine.

The present study has been designed to compare the postoperative pain relief for inguinal hernia repair in children through wound infiltration with levobupivacaine with that provided by paracetamol administration per rectaly. This interventional study was carried out in the Department of Paediatric surgery, Mymensingh Medical College Hospital, Mymensingh and Dhaka Medical College Hospital, Dhaka, during the period from January 2009 to September 2010. A total of 120 patients were included in this study. Among them 60 patients in Group-A (study group) where post incisional wound infiltration with levobupivacain after inguinal herniotomy and before skin closure was done and 60 patients in Group-B (control group) where paracetamol was given per rectally after anesthesia induction. Both groups were followed up post operatively for 23 hours. In Group A maximum analgesic period was 8.30 hours and minimum analgesic period was 5.30 hours. On the other hand in Group B maximum analgesic period was 6.50 hours and minimum analgesic period was 4.50 hours. Duration of post operative analgesia between two groups of the patients were significant [p<0.01]. Post incisional wound infiltration with levobupivacain has significantly better efficacy to rectal administration of paracetamol with respect to providing pain relief following inguinal hernia repair in children. Longer duration of analgesic action is more achieved in the Levobupivacaine group.

Anorectal Malformations and Associated Anomalies in Children.

Anorectal malformations (ARM) incorporate a broad spectrum of diseases, can affect both sexes, and involve the distal anus and rectum as well as the uro-genital tracts. Defects range from the minor which can be treated easily with an excellent outcome, to those are complex and often associated with other anomalies are difficult to manage with poor functional prognosis. This study was done to observe the hospital incidence of Anorectal malformations, frequency of types, sex distribution and spectrum of associations with ARM. The effects of presence of associated anomalies on morbidity and mortality also observed. Detailed history, clinical examinations and relevant investigations were performed for the primary and as well as the associated anomalies. A total of 80 patients were admitted in the department of pediatric surgery in Mymensingh Medical College Hospital during the period of June 2016 to May 2017. Age of the patients was ranging from 1-180 days with the mean age of 0.49±1.002 months. Male: Female ratio was 1.6: 1. Among them 48(60%) were high and 32(40%) were low variety of ARM. In male 37(46.2%) had high and 13(13.7%) were low variety whereas in female 11(13.7%) were high and 19(23.7%) had low ARM. Associated anomalies were seen in 25(31.2%) patient -18 in males and 7 in females; 20 in high and 5 in low ARM. Associated anomalies were uro-genital 11(13.8%), cardiovascular 10(12.5%), vertebral 4(5%), limb defects 3(3.5%) and others 2(2.5%). Four patients have more than one anomaly. Anorectal malformations occur more in boys than girls. Males were more likely to have high lesions and without fistula was the common defect. Low variety ARM were found more in females with Anovestibular fistula is the commonest defect. The most common associated anomalies were recto urinary fistula (13.8%). Associations were more in high than low ARM but not significant (p>0.05). Post operative complications were more in high ARM in both sexes with associated anomalies. The effects of types and associations on morbidity and mortality were significantly different (p<0.05).

Incidence of Negative Appendicectomy in Clinically Diagnosed Patients of Acute Appendicitis.

This study was conducted in the department of Surgery, Mymensingh Medical College Hospital, Mymensingh, Bangladesh from January 2016 to December 2017 and performed to assess the negative appendicectomy on histopathology followed by clinically and laboratory investigations based diagnosed acute appendicitis. To perform this prospective study 200 patients with pain in right iliac fossa of both sexes randomly selected and were evaluated by history, clinical examination, laboratory investigations (USG, CBC) and scoring system. Among 200 patients male 124 and female 76 under went appendicectomy 36 were histopathologically normal appendix. Over all negative appendicectomy (NAR) 18%, among them 14.5% (18/124) were male & 23.67% (18/76) were female.

Limited versus Aggressive Open Discectomy for a Single Level Lumbar Intervertebral Disc Prolapse.

Open lumbar discectomy is the gold standard surgical procedure for intervertebral disc herniation but still controversy exit whether limited or aggressive open discectomy provides better outcomes. Retrospectively we evaluate 2380 patients to compare the clinical outcomes, complications and recurrence rate between limited (LD) and aggressive open discectomy (AD). Records of 745 men and 255 women aged 19 to 55 (mean, 38.03±9.1) years for LD and 995 men and 385 women aged 21 to 60 (mean, 43.7±9.3) years for AD were reviewed. Demographic data, surgical data, complications and re-herniation rate were collected and assessment done by Visual analogue score (VAS), Oswestry Disability Index (ODI) and modified Mcnab criteria. The mean follow-up period was 24.5 and 28.8 months respectively. In compare to aggressive discectomy, limited discectomy required significantly less operative time (95 vs. 55 minutes, p<0.001, unpaired 't' test), less used of post-operative analgesic (p<0.05) and better patients' satisfaction (p<0.05). But low back pain, leg pain, recurrence rate, infection, per-operative blood loss and periods of hospitalization were without significant difference. Both groups achieved satisfactory clinical outcomes 85%, 78.62 % respectively. Complications were foot drop (n=2, 5), dural tear (n=7, 14), superficial wound infection (n=7, 17) and discitis (n=19, 37) and reherniation (55, 64) respectively. Limited discectomy is an alternative to the aggressive discectomy. Both groups showed satisfactory outcome but in limited discectomy group shown better satisfaction in relation to aggressive discectomy.

Study of Risk Factors, Causative Organisms & Their Sensitivity Pattern in Neonatal Sepsis in a Community Based Tertiary Level Hospital.

Neonatal sepsis is one of the most common reasons for admission to neonatal units in developing countries. It is also a major cause of mortality in both developed and developing countries. The type and pattern of organisms that cause neonatal sepsis changes over time and vary from one hospital to another hospital, even in the same country. In addition the causative organisms have developed increased drug resistance for the last two decades. Maternal, neonatal and environmental risk factors have contributed for the development of sepsis. To study the risk factors, causative organism and bacterial sensitivity pattern in cases of neonatal sepsis. This cross-sectional study was conducted over a period of six months. The study included 100 patients admitted at the neonatal ward of Department of Pediatrics, Community Based Medical College Bangladesh, Mymensingh, Bangladesh. Blood samples for culture were taken aseptically before starting antibiotic therapy. Microorganisms were isolated and identified by standard microbiological processes and antimicrobial sensitivity patterns were performed against amikacin, gentamicin, ceftriaxone, ciprofloxacin and ceftazidime. The factors which carried a significant risk for development of neonatal sepsis were low birth weight, preterm neonates, meconium stained liquor and prolonged rupture of membrane (>18 hours). Gram negative organisms predominated (68.8%) with Escherichia coli (33.3%) being the commonest. The gram negative bacteria which were isolated sensitive to amikacin, gentamicin and ceftriaxone. The organisms also relatively more sensitive to ciprofloxacin and highly sensitive to ceftazidime. The Gram positive bacteria showed sensitivity against only the antibiotic Ceftriaxone and Ciprofloxacin. The overall mortality was 9%. The outcome of the study will contribute to preventing and treating neonatal sepsis in the hospital.

Estimation of Vitamin D levels among Physicians Working in a Tertiary Level Hospital of Bangladesh.

Vitamin D is essential for the body to regulate calcium and phosphate levels and mineralization of bone. It is synthesized in the skin after ultraviolet radiation exposure or obtained in the diet to a less extent. Vitamin D deficiency is attracting attention due to higher prevalence in different populations. Physicians of Bangladesh are supposed to be vulnerable to low Vitamin D levels owing to long indoor work hours in both government and private settings. The study was conducted to evaluate Vitamin D status among physicians working in a tertiary level public hospital of Bangladesh. The cross sectional descriptive study was carried out at Mymensingh Medical College Hospital during the period of January 2018 to June 2018. Data were collected from purposively selected 102 doctors of different levels using a case record form. Interview, measurements and laboratory investigations were done accordingly. Vitamin D levels were categorized as deficient (<20.00ng/L), Insufficient (20.00-29.00ng/L), Sufficient (30.00-100.00ng/L) and Potential Toxicity (>100.00ng/L). Among 102 doctors 79(77.5%) were male and 23(22.5%) were female. Maximum (60.8%) were in the age group of 31 years to 50 years. Mean±SD age of the subjects was 49.9±3.61years. Vitamin D deficiency was found in 19(18.6%) subjects and insufficiency was in 49(48.0%) of the subjects. On the other hand 34(33.3%) subjects had sufficient Vitamin D levels. Potential Vitamin D toxicity was not found in any of the subjects. Vitamin D deficiency was found more in female (30.4%) than male (15.2%) but insufficiency was found more in male (50.6%) than female (39.1%). The study revealed that 66.6% physicians had either deficiency or insufficiency of Vitamin D. Exposure to sunlight, dietary intake and Vitamin D supplementation should be considered to increase the status of Vitamin D levels in Physicians of Bangladesh.

Outcome of Single Stage Correction of High Variety of Anorectal Malformation.

The standard treatment of high variety anorectal malformation (ARM) is the staged approach. A growing interest in one stage correction of high variety ARM was noted recently. The aim of this study was to examine the feasibility, safety and outcome of single stage correction of High variety ARM. This prospective study was carried out in the Department of Paediatric Surgery, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh from July 2012 to September 2013. It was conducted among 30 patients, all having high ARM. The type of ARM was diagnosed by clinical examinations and imaging studies like Invertogram and Transperineal USG. Other associated congenital anomalies were excluded. Out of 30 patients 11(36.67%) were male and 19(63.33%) were female. The age incidence ranges from 2 days to 5 months with the mean±SD age 1.70±1.63 months. The type of fistula present along with ARM in male varies from rectobulber urethral fistula, recto prostatic urethral fistula, recto vesical fistula and in one case without any fistula. Type of fistula was rectovestibular, rectovaginal and one cloacal malformation among the female patients. The treatment modalities in male patients vary in transabdominal pull through anorectoplasty and PSARP, in which the former was done more (72.73%). In case of female patients, treatment modalities vary in transabdominal pull through and anorectoplasty and transfistulous anorectoplasty, with the later done more (52.63%). Regarding post operative complications, there was 1(14.29%) wound infection in male and 1(33.33%) in female, partial wound disruption in 1(14.29%) male patient, mucosal prolapse 2(28.57%) in male and 1(33.33%) in female, anal stenosis 1(14.29%) in male and 1(33.33%) in female, perianal soiling in 1(14.29%) male patient. All the complications were treated by adopting various measures. One stage correction of High variety ARM in both male and female patients is technically feasible. The safeties of this approach depend on the adherence to strict inclusion criteria. The early post operative complications are acceptable and can be managed successfully.

Clinicopathological Study of Enterocutaneous Fistula in Mymensingh Medical College Hospital.

Enterocutaneous fistulae are a major catastrophe to the patients and surgeons and it still has high incidence of morbidity and mortality and their management remains a big challenge. Enterocutaneous fistula presents the surgeon with challenges of metabolic disorders and extensive sepsis. Total management of an intestinal fistula requires skill in nutritional support, stoma therapy, elimination of sepsis, well timed and well carried out surgery. Postoperative enterocutaneous fistulae account for approximately 80% of enterocutaneous fistulae. The majority of the intestinal fistula (75-85%) is iatrogenic occurring in the postoperative period following anastomotic dehiscence. They arise following emergency abdominal surgery for intestinal obstruction, inflammatory bowel disease or cancers. Protein calorie malnutrition alters the patients immune response, inflammatory reactions and tissue regenerations, all of which are essential for wound repair. The present study is an effort to highlight the incidence of enterocutaneous fistula after emergency and elective resection and anastomosis of gut with discussion over recent trends and developments in its management and compare with other studies. Objectives of the study are to determine the various clinicopathological features and management protocol of enterocutaneous fistula. There are recent advances in nutritional support. This descriptive type of cross-sectional study was carried out in the Department of Surgery, Mymensingh Medical College and Hospital, Mymensingh, Bangladesh from October 2010 to September 2011. Total 42 cases of enterocutaneous fistulae were selected purposively. Enterocutaneous fistulae are more common in patients of low economic condition. Enterocutaneous fistulae are more common after emergency abdominal surgery. Spontaneous closure occurred in 17(40.48%) cases and surgery needed in 25(59.52%) cases. Of them 20(80.00%) were healed and 5(20.00%) were expired. In spite of improvement in the management protocol of enterocutaneous fistula, there is still high unacceptable morbidity and mortality rate. Total parenteral nutrition (TPN) is not available and very costly, and health care facilities are also limited in our country. Patients with enterocutaneous fistula require fluid, electrolytes and nutritional support. Anaemia, dehydration, electrolytes imbalance should be corrected prior to abdominal surgery if possible. Surgical treatment for enterocutaneous fistula should be performed only after failure of conservative treatment of more than 12 weeks.

Maternal and neonatal colonization in Bangladesh: prevalences, etiologies and risk factors.

OBJECTIVE: To estimate the prevalence of maternal colonizers in South Asia and their potential to colonize the umbilicus, an important precondition causing neonatal sepsis. STUDY DESIGN: We conducted a cross-sectional study at a maternity center in Dhaka with 1219 pregnant women and a subset of 152 newborns from 15 January to 31 October 2011. During labor, study paramedics collected vaginal swabs for bacterial culture and rectal swabs for Group B Streptococcus (GBS) testing. Community health workers collected neonatal umbilical swabs. Log-binomial regression models were used to estimate risk ratios. RESULT: In all, 454 women (37.2%, 95% confidence interval (CI) 34.5 to 40.0%) were colonized. The most common organisms isolated were Staphylococcus aureus, Non-GBS and GBS. A total of 94 women (7.7%, 95% CI 6.2 to 9.2%) were colonized with GBS. The risk of GBS umbilical colonization was higher (RR=12.98, 95% CI 3.97 to 42.64) among newborns of mothers with GBS colonization. CONCLUSION: Newborns of mothers colonized with GBS are at higher risk of developing umbilical colonization.