Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1-q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation.

Knowledge and attitudes regarding bleeding gums among school children of Peshawar

The objective of this cross sectional study was to assess Knowledge, Attitude and Practices [KAP] regarding bleeding gums in school going children of Peshawar. Seventy-four percent of students were aware of the term bleeding gums whereas 26% did not have any idea. Sixty three percent of the students were suffering from bleeding gums and 51% consulted a dentist in order to get them cured. While the rest used some home remedy or did nothing, and ignored bleeding gums. Based on these results it was concluded that the school going children of this study were not fully aware about bleeding gums and their effects on oral health

Pattern of skin malignancies in patients presenting to dermatology department Hayatabad Medical Complex Peshawar

This study was conducted to determine the pattern of cutaneous malignancies among patients attending the skin out-patient department Hayatabad Medical Complex Peshawar. This was descriptive analysis of skin cancers carried from January 2011 to December 2011. Histologically diagnosed skin cancers were reviewed and analyzed according to age, gender, site of distribution and histological types. Hundred histologically diagnosed skin malignancies were reported during the period under review. Sixty cases [60%] were males and 40 cases [40%] females with a male to female ratio of 1.5:1. Age ranged from 22 years to 86 years. Mean age was 57.05 +/- 11.39 SD. Mean duration of disease in months were 16.78 +/- 9.07SD. Basal cell carcinoma [BCC] was the most common malignancy consisting of 32[32%] cases followed by Squamous cell carcinoma [SCC 18%] with 10 [10%] cases of melanoma and 9[9%] cases of Mycosis Fungoides. Actinic Keratosis, Kaposi's sarcoma, Bowen's disease, Dermatofibroma, Atypical fibroxanthoma constituted the remaining. The most common skin malignancy was BCC followed by SCC and melanoma. Larger studies should be conducted to ascertain the actual prevalence of skin tumors

Comparison of mineral trioxide aggregate [MTA] and zinc free amalgam as retrograde filling materials in the surgical endodontics

The aim of this study was to compare the success rate of root end filling material using mineral trioxide aggregate and zinc free amalgam in apicectomized teeth. In the present study, [30 patients having previously failed or incomplete endodontic treatment]. The sample was divided into 2 groups, 1st group was treated with MTA root end filling, while the 2nd group was treated with Zinc free amalgam. The patients were followed up for one year to assess the periapical area both clinically and radiographically. There was no significant difference between the success rates of MTA treated group and that of zinc free amalgam treated group, although MTA has a higher success rate than amalgam treated group in some other studies. The success rate of MTA treated group was [86.6%], and of zinc free amalgam treated group was [66.6%]. It was concluded that MTA can be a good alternative to amalgam as a retro grade filling material, but amalgam is inexpensive, easily available and most of the dentists are familiar with its use

Functional outcome of the minimally invasive plate osteosynthesis for the supracondylar fractures of femur using dynamic condylar screw

To assess the functional outcomes of minimally invasive plate osteosynthesis [MIPO] for the extra-articular and undisplaced intra-articular supracondylar fractures of femur using dynamic condylar screw [DCS]. Descriptive case series. Department of Orthopaedic Surgery, Jinnah Postgraduate Medical Centre Karachi, from April 2009 to October 2011. Patients were enrolled from accident and emergency and OPD. OPD follow-ups were carried out at 2nd, 6th, 12th, 18th, and 24th weeks, then every 2nd month for the assessment of rate of union and range of motion of knee joint. A total of 83 patients were included. There were 55 males and 28 females. Male to female ratio was 1.96:1. Patients were 25-50 year of age. Seventy four [89.2%] of the injuries were caused by road traffic accident and 9 [10.8%] due to fall from height. Forty six [55.4%] patients had fractures on right side and 37 [44.6%] on left side. Radiological union was achieved in 79 [95.2%] patients at an average period of 19.05 weeks. The radiological bony union was achieved in 16-18 weeks in 25[30.1%] patients. Four patients developed nonunion for which bone graft from iliac crest was placed after 24 weeks. Two achieved union in one year follow up while two were lost to follow up. At end of one year, forty-three [51.8%] cases had knee flexion from zero to 90° - 120°, 25 [30.1%] cases had knee flexion of > 120° and remaining 15 [18.1%] cases had knee flexion of <90°. At the end of one year satisfactory [knee motion > 90°] functional outcome as achieved in 68 [81.9%] cases. High rates of both radiological union [95.2%] and satisfactory [knee motion > 90°] functional outcome [81.9%] were achieved in large number of cases

Outcome of intramedullary interlocking SIGN nail in tibial diaphyseal fracture

To determine the outcome of intramedullary interlocking surgical implant generation network [SIGN] nail in diaphyseal tibial fractures in terms of union and failure of implant [breakage of nail or interlocking screws]. Case series. Orthopaedics and Spinal Surgery, Ghurki Trust Teaching Hospital, Lahore Medical and Dental College, Lahore, from September 2008 to August 2009. Fifty patients aged 14 - 60 years, of either gender were included, who had closed and Gustilo type I and II open fractures reported in 2 weeks, whose closed reduction was not possible or was unsatisfactory and fracture was located 7 cm below knee joint to 7 cm above ankle joint. Fractures previously treated with external fixator, infected fractures and unfit patients were excluded. All fractures were fixed with intramedullary interlocking SIGN nail and were followed clinically and radiographically for union and for any implant failure. Forty one [88%] patients had united fracture within 6 months, 5 [10%] patients had delayed union while 4 [8%] patients had non-union. Mean duration for achieving union was 163 + 30.6 days. Interlocking screws were broken in 2 patients while no nail was broken in any patient. Intramedullary interlocking nailing is an effective measure in treating closed and grade I and II open tibial fractures. It provides a high rate of union less complications and early return to function

Primary intracranial malignant melanoma

Primary intracranial melanoma is an extremely rare lesion of the brain. A 28 years old lady, without any co-morbid conditions, presented with headache and left side facial numbness. MRI of brain showed a mass lesion in left middle cranial fossa extending into posterior fossa, with signals characteristics of melanoma. Histology and immunohistochemistry confirmed the diagnosis after surgical excision of that lesion. Patient remained symptom-free till the last follow-up that was four years postoperatively

Exchange nailing for delayed or non union of diaphyseal femoral fractures

To determine the effectiveness of exchange nailing for delayed or nonunion of diaphyseal femur fractures. Descriptive case series. Department of Orthopaedics Jinnah Postgraduate Medical Center Karachi, from March 2009 to February 2012. All patients with delayed or hypertrophic nonunion of diaphyseal femur fractures diagnosed on clinical and radiological examination, were included. Patients with infective nonunion, segmental fractures or fractures with bone loss and open fractures were excluded. Exchange nailing was performed. A total of 36 patients were managed which included 27 males and 9 females. Twenty-four [66%] patients were between 30 - 40 year of age. Left femur was predominantly involved [56%]. The non union involved middle third in 61% cases. Following surgery union was achieved in 33 [92%] cases. In 14 patients union occurred between 4 to 6 months. Superficial infection occurred in 2 patients. Exchange nailing is the one of best options for delayed or nonunion of femoral diaphyseal fractures.

Chronic hepatitis "C" a dermatologic outlook

OBJECTIVE: To determine the cutaneous manifestations of hepatitis [C] virus infection at tertiary care hospital

METHODOLOGY: This descriptive study was performed in Department of medicine, Khyber Teaching Hospital Peshawar. Study was performed in the outpatient and inpatient medical units of Khyber Teaching Hospital Peshawar from 1stJanuary 2009 to 30 June 2010. 325 patients met the inclusion criteria. Hepatitis C patients of age >15 years and either gender were examined. All hepatitis C patients, diagnosed by third generation ELISA and/or polymerase chain reaction were allowed to participate. Subjected to detailed history, careful clinical examination of skin by dematologist to recognize and diagnose the cutaneous condition. Data was entered in a prestructured Performa. For data interpretation SPSS 14 was used. Descriptive statistics were used. Mean + standard deviation was sorted for age. Frequencies and percentages for various variables were calculated

RESULTS: Of all 325 HCV +ve patients were included in this descriptive study. Male patients were 61% and female 39%. Mean age was 43 [SD+10 years], ranging from 15 to 78 years. About one-fourth of patients [23%] were using anti-viral therapy the rest 77% were with out antiviral therapy. About 41% had one or more cutaneous lesion

Pruritis was the leading manifestation found in 11%. Lichen planus [oral and cutaneous] was next found in 6.7% patients. Hyperpigmentation was seen in 5.5% patients. Urticaria [acute and chronic] was next counting 5.23%. Jaundice, alopecia and vitiligo were seen in 4.9% each. Dry skin and interferon injection site erythema was observed in 4.6% patients each. Cutaneous vasculitis was noticed in 3.6% each. While Reynaud's Phenomenon photosensitivity and psoriasis were seen in 1.5%1.8% 2.5% patients respectively

CONCLUSION: Skin lesions are common in patients with anti-HCV patients. Dermatologic lesion may be the initial clue of HCV positivity. Screening studies are needed to find the exact prevalence of skin manifestations of chronic HCV and its treatment

Determination of antibiotic resistance pattern in Escherichia coli strains isolated from animal faeces in a farm house

The present study aimed to evaluate the antibiotic resistance pattern of Escherichia coli strains isolated from animals to ascertain the levels of antibiotic resistance pervasiveness. A total of 28 E. coli strains were isolated from faecal samples and the antibiotic resistance pattern of E. coli strains was determined by means of disc diffusion assay. The resistance pattern determined for all strains was amoxicillin, streptomycin, cefepime, azteronam, amoxicillin/clavulanic acid, ciprofloxacin and ceftriaxone

About 50-75% of the strains were reported as resistant to more than five antibiotics [multidrug-resistant]. This might result in broadening of the antibiotic resistance canvas among animals and from animals to human taking the animal food products or living in close contact with them?

Gestational trophoblastic disease

Molar pregnancy represents a significant burden of disease on the spectrum of Gestational Trophoblastic Disease [GTD]. The incidence appears to be quite high in South Asia. The objective of this study was to determine the frequency of GTD, and clinical presentation, management and outcome of patients with molar pregnancy. This retrospective, descriptive study was conducted at Nuclear Institute of Medicine and Radiotherapy [NIMRA], Jamshoro from 1[st] Jan to 31[st] Dec 2009. All patients diagnosed and registered as GTD were included in the study. The clinical records of all molar patients were reviewed regarding presentation, treatment, and follow-up. There were a total of 167 patients presenting with different female genital tract neoplasia at NIMRA during the study period, including 39 [29.35%] cases of GTD. Hydatidiform mole was seen in 33 [84.61%] patients. Complete mole in 31 [79.48%], partial mole in 2 [5.12%] patients, invasive mole in 1 [2.56%] patient, and choriocarcinoma in 5 [12.82%] patients. The mean age of the patients was 27 +/- 9.8 years. The highest incidence was found in nulliparous and para 1. Thirty-two patients had suction evacuation and 1 patient underwent hysterectomy. Patients received chemotherapy, 17 [54.54%] patients followed protocol for 3-6 months. Frequency of molar pregnancy was high, more common in low-parous, poor socioeconomic class women, and usually presented late.

Effectiveness and safety of narrowband ultraviolet b therapy in chronic plaque psoriasis

To determine the effectiveness and safety of narrow band ultraviolet B in chronic plaque Psoriasis. This descriptive case series study was carried out at skin unit Lady Reading Hospital Peshawar from June 2009 to Dec 2010. Sixty patients suffering from chronic plaque psoriasis, between the ages of 12 and 70 years were included in the study. Minimum erythema dose was determined in every patient according to skin types [1-6]. All the patients were exposed to narrow band ultraviolet B. At zero, fourth, eighth weeks and sixteen weeks, Psoriasis Area Severity Index [PASI] was determined and decision was made to increase or decrease the dose according to response of patient. Out of sixty patients fifty eight patients showed response showing effectiveness of 97.1%. Two patients showed poor response. Four patients suffered from moderate erythema itching and vesicles. Narrowband ultraviolet B is a safe and effective therapy for chronic plaque psoriasis but long term follow up is needed to determine its carcinogenic effects

Frequency of cutaneous diseases in geriatric population of type IV and V skin

To determine the frequency of common cutaneous diseases in geriatric population of type IV and V skin. This Cross-sectional Survey was conducted at Skin outdoor department in May Hospital, Lahore. Two hundred and seventy patients of either sex aged sixty years and above were included in the study. Frequency of common dermatoses was noted. The data were analyzed according to age, sex and skin type. Two hundred and seventy patients were included in the study. The mean age of the patients in the study was 66.85 [ +/- 8.1: range 60-105] years. Eczemas were found in [40%] of geriatric population, scabies [25.2%], fungal infection [14.8%], pruritus [9.6%], viral [8.1%] and bacterial [2.2%] infections. Regarding miscellaneous diseases, significantly greater number of patients aged 80 years or more were diagnosed to have malignant skin disorders. Eczemas were the most common dermatoses. Scabies was more prevalent in females as compared to males. The chances of skin cancer like BCC increases as the age advances

Contusion index: its importance in management of traumatic brain contusions

To describe the changes of Glasgow Outcome Scale [GOS] and Glasgow Coma Scale [GCS] after surgical and / or conservative management of patients with contusions based on Contusion Index [C. I.]. Descriptive Study. Department of Neurosurgery, Dow University of Health Sciences/ Civil Hospital, Karachi. Two years and five months between August 2006 and January 2009. 50 patients of ages between 6 to 75 years, including both sexes were evaluated on the basis of contusion index as determined by computerized tomographic scan [C.T. Scan] findings and their Glasgow outcome scores were established. Patients with contusion index 0-3 should be conservatively managed. Patients with contusion index 6 should be given the benefit of some sort of surgical procedure first, which showed best results with surgical management and poor results with conservative management. Patients with contusion index 9, no matter what, always show a poor outcome. We recommend that a future study should be done to arrive at a decision regarding conservative versus surgical management of patients with cerebral contusions based on Contusion Index which will help us avoid unnecessary surgeries and vice versa

Giant cell tumours in hand bones

To describe the clinical features of Giant cell tumour of hand, in terms of aggressiveness, multicentricity and radiological grading at presentation, surgical procedures and final outcome. A case series. Jinnah Postgraduate Medical Centre [JPMC], Karachi, from January 1990 to January 2009. Seven cases of Giant cell tumour of hand bones were diagnosed in last 19 years and included in this study. Patients with infections in hand and procedure performed at other centre were excluded. Clinical and radiographic features were analyzed, definitive operative procedures performed and follow-up of the patient were studied and updated. Two hundred ten cases of Giant cell tumour of bones were seen in last 19 years at JPMC, Karachi; 7 cases were of GCT of hand bones which constitutes around 3.3% of all GCT. Four patients [57%] were male and 3 [43%] female with mean age of 24.28 +/- 5.7 years. Four [57%] cases were in metacarpal and 3 [43%] in phalanges. Average duration of symptoms was 5.78 +/- 3.26 months; all presented with radiological stage 3 lesions. One case of multicentric lesion presented after treatment of primary GCT of distal radius. Excision of the tumour and reconstruction by autogenous graft was performed in 6 cases and ray amputation in one case. No complication or recurrence noted in any case on an average of 4.5 years [ranging from 1.5-8 years] follow-up. Giant cell tumour in hand bones is rare tumour and shows specific clinical and radiographic features with early involvement of entire bone, more aggressive behaviour and multi centricity. The treatment of choice is resection of the tumour with reconstruction or ray amputation

Pattern of distribution of metastatic lesions within skeleton in patients with breast carcinoma of Faisalabad and its vicinity

Evaluation of pattern of distribution of skeletal metastases in patients with breast carcinoma. by using [99m]Tc MDP Skeletal Scintigraphy. Retrospective Analysis. Study was conducted at Punjab Institute of Nuclear Medicine [PINUM], Faisalabad Pakistan from January 2006 to June 2009. A retrospective study was performed on 465 consecutive patients having CA Breast irrespective of preoperative/postoperative status, presenting for bone scan at Punjab Institute of Nuclear Medicine. Whole body bone scan was performed, along with additional spot views, where needed. The images were interpreted for metastatic deposits by three independent observers. Where needed, plain X-ray was performed to correlate in favor of benign pathology. Out of 465 patients [453 female and 12 Male], 286 [62%] patients were having either normal bone scan or some benign pathology as correlated with plain x-ray of the suspected area. 179 [38%] patients were positive for metastases within skeleton. Among these, 61.4% patients were having multiple, 14% with two, while 24.6% were diagnosed as having solitary lesions within the skeleton. In patients having multiple skeletal lesions, highest number was noted in spine [84.5%- most common in thoracolumbar], followed by ribs [55.5%], pelvis [37.3%---most frequent in iliac bone], skull [32%], scapula [27.3%], sternum [26.4%], femur [19.1%], humerus [14.5%], clavicle [3.6%] and tibia [0.9%]. In humerus and femur, most lesions were located in their upper ends, followed by shafts. Right side of skeleton was more frequently involved than the left. In patients having lesions in ribs and pelvis, most of the lesions were bilateral. Patients with two lesions showed maximum number of lesions in rib cage [44%], followed by spine [32%-all being in thoracolumbar region], scapula [24%], pelvis and scapula [24% in each], sternum [16%], skull [8%], humerous and femur [4% in each]. In patients having solitary focal lesion, highest number was noted in spine [45.5%-most common in thoracolumbar spine], followed by ribs [22.7%], sternum and pelvis [13.6% each], and skull [6.8%]. No lesion was noted in appendicular skeleton. Multiple skeletal metastases are much more common than solitary or two lesions in cases of known breast carcinoma. Axial skeleton including skull is most commonly involved. Spine [especially thoracolumbar] is the most frequent site of involvement followed by rib cage, pelvis and then skull. In peripheral bones, most frequent site is the upper end of femur followed by humerus

Follicular thyroid carcinoma presenting initially with skull metastasis

Follicular thyroid carcinoma very rarely present initially with metastasis to skull. This report describes an otherwise asymptomatic 52 years old female patient with follicular thyroid carcinoma, who initially presented with soft mass in right occipito-parietal region and a multinodular goiter. Radiology showed an osteolytic lesion with overlying soft tissue component. Histopathology revealed metastasis from a well differentiated follicular carcinoma of thyroid gland

Childhood tuberculosis ; Chemotherapy in Pakistan

This article reviews the treatment of tuberculosis regimens and dosage schedule recommended by different organizations and guidelines

Frequency of two canals in maxillary second premolar tooth

To determine the frequency of two canals in relation to age and gender as well as role of shift cone angle radiographic technique in maxillary second premolar tooth. A cross-sectional study. The study was conducted in Operative Department [Endodontic Department], Hamdard University Dental Hospital, Karachi, from January 2004 to February 2005. One hundred and twenty patients were selected for the study, based on non-probability purposive sampling technique. Twenty patients were dropped out of the study and the data was analyzed for 100 patients. All patients were examined clinically as well as radiographically. Then the canals were opened to further confirm and treat the tooth. The findings were noted on a performa and then cross-tabbed for the significant difference. One hundred patients [43 males [43%] and 57 females [57%]] whose mean age was 36.2 [SD +/- 7.3] were treated. Forty [40] years was the age limit for dividing the patients into two groups. Out of 43 males, 27 [63%] were below 40 years and out of 57 females, 38 [67%] were below 40 years. Statistical analysis with Chi-square revealed no significant difference. Out of 43 males, 27 [63%] had two canals and out of 57 females, 30 [53%] had two canals with no significant difference between the two groups. Results of parallel X-ray were cross tabbed with shift cone angle technique and the difference was highly significant [Chi-square value 9.61 and p-value 0.002]. Frequency of two canals was high is not age or gender dependant. Shift cone angle technique should be used as radiographic support for the clinical examination to identify the number of canals. The second canal became apparent with shift cone technique in 78% cases where additional periapical radiographs with shift cone angle technique were taken