Prevalence of multi-drug resistant uropathogenic Escherichia coli in Potohar region of Pakistan

Objective: To scrutinize patterns of multi-drug-resistant uropathogenic Escherichia coli (UPEC) strains and particularly of fluoroquinolone-resistance this is an alternative choice for the treatment of urinary tract infections. Methods: Bacterial samples (n = 250) were collected from out-patients from August 2012 to August 2014 Islamabad. Antibiotic susceptibility profiling and determination of minimum inhibitory concentrations (MICs) and minimum bactericidal concentrations were performed according to the guidelines of Clinical and Laboratory Standards Institute (CLSI, 2012). Genes, qnrA, qnrB and qnrS were identified by DNA amplification and sequencing. Results: The highest percentage of UPEC isolates were resistant to co-trimoxazole (82%) followed by cephalothin (80%), 2nd Gen, 3rd Gen and 4th Gen cephalosporins, respectively. Resistance against gentamicin, amikacin remained 29% and 4%. For other drugs including nitrofurantoin, tetracycline, carbapenem and beta-lactam inhibitors remained below 10%. Altogether, 59% of the isolates were resistant to at least three antibiotics including one fluoroquinolone. Overall, MICs for ciprofloxacin remained (MIC ≥ 256 μg/mL) and for levofloxacin (MIC ≥ 16 μg/mL and 32 μg/mL). No significant differences were observed regarding MIC values of extended spectrum β-lactamase (ESBL) and non-ESBL producers. For qnrS and qnrB positive isolates MICs remained above 32 μg/mL. Prevalence of UPEC was significantly higher among females and 40% of the isolates were ESBL producers. Conclusions: Higher percentages of ESBL producing UPEC were associated with urinary tract infections. Moreover, the majority of these isolates were multi-drug resistant and fluoroquinolone-resistant.

Seroprevalence of HDV among non-hospitalized HBsAg positive patients from KPK-region of Pakistan

Objective To study the seroprevalence of hepatitis B virus (HBV) and hepatitis delta virus (HDV) infections in patients visiting outpatient department of a major tertiary care hospital in Khyber Pakhtunkhwa region of Pakistan. Methods Blood samples were collected from non-hospitalized patients. Serological analysis was done by ELISA and viral DNA was amplified by PCR. The amplified DNA was analyzed by agarose gel electrophoresis. Results Altogether, 946 blood samples were screened, overall percentage of HBsAg-positive patients remained 22.41% (prevalence: 224.10/1 000; CI: 0.197 5 ± 0.250 7) with the highest incidence rates among relatively younger age groups (20–29 years). The prevalence of HBV–HDV co-infection was found to be 46.75/1 000; CI: 0.031 8 ± 0.061 7. In HBsAg-positive patients, anti-HBc-total was detected in 86.79% while 25.00% were positive for anti-HBc-immunoglobulin M. Similarly, among these patients, HBV DNA was detected in 64.13% and 10.85% were co-infected with HDV. Different symptoms were associated with the prevailing infection, including malaise (62%), anorexia (66%) and fatigue (73%). The most commonly associated symptom was abdominal discomfort. Among these patients, certain risk factors, including surgery, visit to dentist and intravenus infusions were frequently associated with the infection (χ

Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

Terminal transverse deficiency of forearm is a very rare limb malformation. Most of the cases have traumatic etiology and congenital presentation is less common. A series of six individuals with transverse deficiency through the hands is presented in this communication. The cases were congenital, morphologically similar and showed loss of four fingers, most often postaxial. The affected arm was reduced in size compared to the contralateral limb and there was distortion of palmer creases. All cases were sporadic and nonsyndromic in nature. The characteristics of these cases were concordant with the symbrachydactyly type III or monodactylous type, when classified according to the scheme proposed by Blauth and Gekeler [1973]. The malformation resulted in permanent quality-of-life impairment in these subjects and warrant prosthetic management. Detailed physical and phenotypic features of the patients have been presented

Congenital limb deficiency associated with intellectual disability: unusual presentation in two subjects

Congenital constriction ring [CCR] and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability [ID] and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments. The association of limb deficiency conditions with these anomalies is very rare. Differential diagnosis and literature survey have been offered to establish the rarity of these entities

Congenital constriction ring of limbs in subjects with history of maternal substance use

Congenital Constriction Ring [CCR] is a rare malformation which manifests itself in the form of ring-like constrictive bands. Due to its heterogeneous nature, its etiology remains unclear. Here, we present a series of seven independent individuals afflicted with CCR, which primarily involved the digits. The phenotypic manifestations included terminal phalangeal reduction, anonychia, digit hypoplasia, and acrosyndactyly. Mesoaxial digits in hands and preaxial digits in feet were most frequently affected. Camptodactyly and clubfoot were witnessed in four and one subject, respectively. Curiously, mothers of six of these subjects revealed that they consumed copious amounts of Multani mitti[Fuller's clay] and/or Naswar[nonsmoke-tobacco], during their respective pregnancies. Maternal substance use during pregnancy is not an unusual practice, however, its relationship with CCR as pregnancy outcome remains unexplored. Case-control studies are warranted to elucidate the relationship between the exposure to these substances and the etiology of CCR and/or other limb defects in the offspring

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

Grebe syndrome [OMIM-200700] is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the craniofacial and axial skeleton were minimal. Genetic analysis revealed four base pair insertion mutation [c.1114insGAGT] in gene coding cartilage-derived morphogenetic protein-1 [CDMP1]. This mutation was predicted to cause premature stop codon. The clinical presentation in this study broadens the range of phenotypes associated with CDMP1 mutation in Pakistani population

Prevalence and pattern of traumatic limb amputations in female population of Bhimber District, Azad Jammu and Kashmir, Pakistan

Traumatic limb amputations [TLA] are structural defects that cause mild-to-severe disabilities and have significant impact on the quality of life of subjects. A recent epidemiological study in Bhimber District, AJK, Pakistan, revealed that TLA had a very high incidence among the young/adult females. The present study aimed at determining the prevalence, pattern, causes and risk factors associated with TLA in that female sample. In a prospective door-to-door survey, 1731 females were randomly enrolled, and clinico-etiological investigations on 19 subjects with TLA were carried out in a follow-up study. Affected subjects were physically examined and phenotypic detail and restriction to normal function were documented. There were 19 subjects with TLA, hence the prevalence was estimated to be 10.98/1,000 [0.011%; CI=0.0061-0.0159]. TLA mostly involved the upper limbs and right hand. Transphalangeal amputations were most frequent, followed by involvements of middle/upper arm and leg segments. These analyses further revealed that agriculture tools were the leading cause of trauma. TLA were witnessed to be higher in subjects originating from Samahni tehsil [OR:2.71], rural areas [OR:3.33], those who were illiterate [OR:2.65], married, spoke Pahari language [OR:1.73], those who fall in higher age category [OR:16.74], and had certain professions. Limb amputations had heavy bearings on the lives of subjects. Curiously, majority of these traumas could be avoided by adopting certain safety measures. Prevalence and risk estimate of TLA across various socio-demographic variables of Bhimber population would be useful in guiding further studies and the public health policy to mitigate the impact of these anomalies

Prevalence of hepatitis C virus infection among thalassemia patients: a perspective from a multi-ethnic population of Pakistan

OBJECTIVE@#To evaluate current situation regarding the prevalence of hepatitis C virus (HCV) in thalassemic patients visiting a thalassemia centre in Rawalpindi District, Pakistan for supportive therapy.@*METHODS@#Serum samples were screened for hepatitis B surface antigen and anti-HCV by using commercially available ELISA kit. Micro-plate reader was used to perform analysis based on the absorbance/cut-off ratios. Samples were considered positive or negative. Results from ELISA were analyzed statistically.@*RESULTS@#A total of 95 subjects were observed to have β-thalassemia major (96%) and β-thalassemia intermedia (4%). Among these, 47 (49%) were detected positive for anti-HCV antibodies and three for hepatitis B surface antigen. All recruited subjects were observed for therapy/medication behavior and clinical complications. About 83 (87%) patients were on chelation therapy, and overall complications (hepatomegaly, splenomegaly and splenectomy) were observed in 81% individuals. The distribution of disease status (thalassemia and hepatitis) was not significantly associated with gender, age, origin, province, socio-economic status and parental marriage type (P>0.05). The distributions of ferritin levels, therapy/medication and complications were assessed across demographic variables. Thalassemic subjects were distributed with respect to their sporadic and familial presentations. Among the familial cases (n=35), a total of 93 subjects were found to be affected. Parity was scored for the index cases, and majority belonged to second parity (29%), followed by first and third parities (25% and 15%, respectively). The sibship size was increasing with increasing parity level.@*CONCLUSIONS@#Although standardized blood screening procedures are supposed to be implemented, higher prevalence of HCV in thalassemic patients requires greater attention in Pakistan. Furthermore, a poor compliance regarding iron chelation therapy has been observed in this study.

Prevalence of hepatitis C virus infection among thalassemia patients: A perspective from a multi-ethnic population of Pakistan

Objective: To evaluate current situation regarding the prevalence of hepatitis C virus (HCV) in thalassemic patients visiting a thalassemia centre in Rawalpindi District, Pakistan for supportive therapy. Methods: Serum samples were screened for hepatitis B surface antigen and anti-HCV by using commercially available ELISA kit. Micro-plate reader was used to perform analysis based on the absorbance/cut-off ratios. Samples were considered positive or negative. Results from ELISA were analyzed statistically. Results: A total of 95 subjects were observed to have β-thalassemia major (96%) and β-thalassemia intermedia (4%). Among these, 47 (49%) were detected positive for anti-HCV antibodies and three for hepatitis B surface antigen. All recruited subjects were observed for therapy/medication behavior and clinical complications. About 83 (87%) patients were on chelation therapy, and overall complications (hepatomegaly, splenomegaly and splenectomy) were observed in 81% individuals. The distribution of disease status (thalassemia and hepatitis) was not significantly associated with gender, age, origin, province, socio-economic status and parental marriage type (P>0.05). The distributions of ferritin levels, therapy/medication and complications were assessed across demographic variables. Thalassemic subjects were distributed with respect to their sporadic and familial presentations. Among the familial cases (n=35), a total of 93 subjects were found to be affected. Parity was scored for the index cases, and majority belonged to second parity (29%), followed by first and third parities (25% and 15%, respectively). The sibship size was increasing with increasing parity level. Conclusions: Although standardized blood screening procedures are supposed to be implemented, higher prevalence of HCV in thalassemic patients requires greater attention in Pakistan. Furthermore, a poor compliance regarding iron chelation therapy has been observed in this study.

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification of hypoplastic thumb by Blauth and Schneider-Sickert [1981], the phenotypes were concordant with types 3 and 4. In one of the subjects there was contralateral preaxial polydactyly. All cases were sporadic and nonsyndromic and parental consanguinity was witnessed in two individuals. Recurrent appearance of similar phenotypes may suggest genetic etiologies which should be elucidated with the help of high-throughput genetic methods

Study of non syndromic thumb aplasia in six independent cases

To report on six independent and isolated cases demonstrating thumb aplasia as an essentially limb-specific phenotype. The subjects were ascertained during Z01 1 -201 3 from six different geographic regions of Pakistan, and underwent detailed clinical and phenotypic examination. The affected arms of patients had complete absence of first digital rays, medial inclinations of second and fifth fingers, narrowing of palms, missing carpals, and shortening of zeugopod. All the subjects were presented with isolated and sporadic limb deficiencies, and five had no family history of limb or any other malformation. Parental consanguinity was denied in majority of the cases. We present detailed phenotypic manifestation of thumb apalsia in these subjects. Thumb aplasia markedly impairs the normal function of affected hand. Surgical procedures like pollicisation of the index finger should be employed to improve the quality of life of these subjects. There is so far no specific genetic factor known for isolated thumb aplasia, compromising an accurate genetic counseling. Collection of patients with similar phenotypic presentations could be useful in further molecular genetic investigations

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care

Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented

Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: case report of a subject with Adams-Oliver syndrome

Terminal transverse anomalies of digits and congenital scalp defects can occur as separate entities. Both these malformations may accompany each other in a rare hereditary condition called Adams-Oliver syndrome [AOS; OMIM 117600]. AOS is a heterogeneous anomaly which shows occasional involvement of cardio-vascular, pulmonary and frontonasal systems. Additionally, the clinical overlap with other well-characterized malformations like Poland syndrome, cutis marmorata telangiectatica congenita, and aplasia cutis congenita, makes its diagnosis challenging and may compromise accurate genetic counseling and risk estimation. We report a sporadic male child from Southern Punjab, Pakistan in which the phenotypic presentation is consistent with AOS. He had bilateral and asymmetrical terminal deficiency of fingers, symbrachydactyly with anonychia of toes, and aplasia cutis congenita of the scalp. There were no symptoms of any other organ system. We present detailed clinical study with differential diagnosis of AOS

Neonate with congenital transverse deficiency of hand

Congenital transverse limb deficiency is a rare anomaly which manifests itself as aplasia/hypoplasia of the distal structures of limb in transverse axis while the proximal limb remains relatively normal. There is a wide phenotypic variability; the minor type appears as unilateral reduction through the autopod/digits while the extreme forms are characterized by tetramelic transverse imputations through the stylopod. Here, we present the clinical detail and follow up of a male neonate with unilateral transverse deficiency of right hand. The fingers were completely omitted in the affected autopod while a single bead-like nubbin was attached at the radial aspect of the truncated hand. Palm was also reduced and tri-radius was not recognizable. In the roentgenographs, humerus appeared hypoplastic, radius and ulna were dysplastic and proximally fused, and all the digital elements were absent. There was no involvement of any other organ system. Transverse limb defects put a tremendous impact on the affected subject and their families as complete recovery and management through surgery is not possible. Hence, the measures to reduce the prevalence and etiology to these defects are strongly recommended

Zygodactyly with thumb aplasia: an unusual variant in a male subject

This is a presentation of a male subject with unusual combination of limb malformations. The subject had unilateral zygodactyly of the left foot with thumb aplasia in the right hand. Further, the webbing between second and third toes was complete culminating in osseous fusion of the terminal phalanges and valgus deviation of the affected digits of the foot. The nails were also involved but had separate origins. In the right hand, first digital ray was observed to be completely omitted. There was aplasia of certain carpals while the radius showed minimal clinical symptoms. The subject was the product of first cousins union. To the best of our knowledge, this combination of limb phenotype has not been described before