Background Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20–30 % of RP cases. Mutations in the USH2A gene cause a significant proportion of recessive non-syndromic RP and USH type II (USH2). This study aimed to determine the causative role of the USH2A gene in autosomal recessive inherited ocular diseases and to establish genotype-phenotype correlation associated with USH2A variants. Methods We performed direct Sanger sequencing and co-segregation analysis of the USH2A gene to identify disease causing variants in a non-syndromic RP family, two USH2 families and two Keratoconus (KC) families. Results Disease causing variants in the USH2A gene were identified in two families displayed KC and USH2 phenotypes. A novel variant c.4029T > G, p.Asn1343Lys in the USH2A gene was detected in a Pakistani family with KC phenotype. In addition, a missense variant (c.7334 C > T, p. Ser2445Phe) in the USH2A gene was found segregating in another Pakistani family with USH2 phenotype. Homozygosity of identified missense USH2A variants was found associated with autosomal recessive inherited KC and USH2 phenotypes in investigated families. These variants were not detected in ethnically matched healthy controls. Moreover, the USH2A variants were predicted to be deleterious or potentially disease causing by PolyPhen-2, PROVEAN and SIFT. Conclusions This study provided first evidence for association of a novel USH2A variant with KC phenotype in a Pakistani family as well as established the phenotype-genotype correlation of a USH2A variant (c.7334 C > T, p. Ser2445Phe) with USH2 phenotype in another Pakistani family. The phenotype-genotype correlations established in present study may improve clinical diagnosis of affected individuals for better management and counseling.
AIM: To investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families. METHODS: Whole exome sequencing (WES) was performed on genomic DNA samples of patients with arRP to identify disease causing mutations. Sanger sequencing was performed to confirm familial segregation of identified mutations, and potential pathogenicity was determined by predictions of the mutations’ functions. RESULTS: A novel homozygous frameshift mutation [NM_000440.2:c.1054delG, p. (Gln352Argfs*4); Chr5:g.149286886del (GRCh37)] in the PDE6A gene in an endogamous family and a novel homozygous splice site mutation [NM_033100.3:c.1168-1G>A, Chr10:g.85968484G>A (GRCh37)] in the CDHR1 gene in a consanguineous family were identified. The PDE6A variant p. (Gln352Argfs*4) was predicted to be deleterious or pathogenic, whilst the CDHR1 variant c.1168-1G>A was predicted to result in potential alteration of splicing. CONCLUSION: This study expands the spectrum of genetic variants for arRP in Pakistani families.
Background: Alopecia areata is a prevalent, immune-mediated disease that targets anagen hair follicles in gentically predisposed individuals. Their are various treatment modalities of different Ecco Ay and safety for treatment of this chronic ailment. Bimatoprost, a prostamide analog have been recognised with the potential of increased hair growth and can be used as an alternative treatment option. Objective: To compare the efficacy and safety of bimatoprost 0.03% with mometasone furoate 0.1%in the treatment of AA involving eyebrows, scalp and beard. Methods: This was a randomized single-blinded clinical trial done in the Dermatology Outpatient Department of Nishtar Hospital Multan (NHM). The duration of the study was from August 2020 to March 2021. 60 patients with patchy AA having upto 5 patches with a maximum diameter of 5cm in longest dimension involving eyebrows, scalp and beard were included in the study and were randomly assigned to either Group A (topical bimatoprost 0.03% solution twice daily) or Group B (topical mometasone furoate 0.1% cream once daily) for a period of 3 months. Patients were called for assessment monthly (every 4 weeks) and clinical photographs of the site of treatment were taken. Response to the treatment was assessed clinically by subjective improvement of hair growth at the site of hair loss by two physicians as no, mild, moderate and good hair regrowth depending on the percentage of hair re-growth. The data was analyzed through SPSS version 21. Results: At the end of 3 months of treatment, 29 out of 30 (97%) patients of Group B responded to the treatment, while 24 out of 30 (80%) Group A patients responded to the treatment. The response to both treatments was found statistically significant and the p-value was 0.000. Group B treated patients were better in their percentage of hair re-growth, speed of recovery, patient satisfaction and were devoid of any documented side effects. Conclusion: Bimatoprost 0.03% solution (topical), owing to its safety and efficacy represent a better therapeutic option for the treatment of AA involving eyebrows, scalp and beard.
Background: Wart is a viral skin infection. Its etiological agent is human papilloma virus. It is composed of non-malignant proliferations of keratinocytes. Different regimens have been tried for the treatment of warts. 35% Trichloroacetic acid (TCA) is used conventionally but 10% KOH has shown promising results. Objective: To compare the efficacy of topical 35% Trichloroacetic acid (TCA) versus topical 10% Potassium Hydroxide (KOH) in the treatment of palmoplantar warts in children up to 12 years of age. Methods: A total of 148 cases of palmoplantar warts with age between 3-12 years of either gender were enrolled in the study. These cases were divided into two groups (A and B each having 74 patients). The patients in group A were treated with topical 35% TCA and Group B patients were treated with topical 10% KOH. Patients were followed weekly for 8 weeks for treatment and for further 8 weeks to look for recurrence. Final outcome was seen at 16 weeks. The efficacy was labelled as yes in cases with clearance of all disease lesions. Results: In this study overall patients were 148 with 74 cases in each group. Group A had 36 (48.65%) males and group B had 37 (50%). The mean age in group A was 7.42±2.48 and in group B was 7.81±2.50 years. Group A had 44 (59.46%) cases and group B had 47 (63.51%) cases, with age range of 8-12 years. The efficacy in group A was seen in 28 (37.84%) of cases while in group B it was seen in 57 (77.03%) cases. There were significantly better results seen in group B as compared to group A in terms of efficacy with p= 0.0001. Conclusion: The efficacy of 10% KOH is significantly better than 35% TCA and this difference is again significantly better in terms of all the confounding variables i.e. age, site, size and duration of warts. Keywords: Warts, Human Papilloma Virus, 10% Potassium Hydroxide, 35% Trichloroacetic Acid
Objective: To evaluate the efficacy of intradermal tranexamic acid (TA) verses fluocinolone-based triple combination (hydroquinone 4%, tretinoin 0.05%, fluocinolone acetonide 0.01%)therapy in the treatment of melasma. Study Design: Randomized comparative trial Place and Duration: Study was conducted at outpatient dermatology department of Sheikh Zayed hospital Rahim Yar Khan for period of six months i.e from September 2020 to February 2021. Methods: Total 110 patients (age 18-40 year) of both genders having melasma on face were enrolled. Patients details demographics, age, sex and body mass index were recorded after taking written consent. Patients were divided into 2-groups. Group I had 55 patients and received intradermal tranexamic acid and group II had 55 patients andwere given topical fluocinolone-based triple combination (hydroquinone 4%, tretinoin 0.05%, fluocinolone acetonide 0.01%) cream. Follow up was taken for 2-months to determine efficacy and safety. Complete data was analyzed usingSPSS 22.0 version. Results: Out of 110 patients 60 (54.54%) were females and 50 (45.46%) were males. Mean age of the patients in group I was 29.15±5.14 years with mean BMI 24.16±7.22 kg/m2 and in group II mean age was 28.17±5.18 years with mean BMI 23.61±2.48 kg/m2. Most of the patients (85 or 77.27%) had mixed melasma followed by dermal (16 patients /14.54%) and epidermal melasma(9 patients/8.18%). We found that malar-type pattern of melasma was most common, found in 66 (60%) of cases. A decrease in MASI score from baseline (15.4) was found 2.4 in group-Iand 5.6 in group-II. In group II erythema, hypertrichosis, hypopigmentation and acneiform lesions were the side effects found but there was no clinically significant side effect found in group I patients. Conclusion: We found in this study that use of intradermal tranexamic acid (TA) in the treatment of melasma was effective and safe because there were no clinically significant side effects found after this treatment and reduction of MASI score was also significant. Keywords: Triple combination, Melasma, MASI, Intradermal tranexamic acid
Background: Leishmaniasis is a vector-borne disease that causes skin infections around the world through the bite of sand fly. This leads to the formation of cutaneous leishmaniasis and scars on the area that a cosmetically significant. Objective: Our study aimed to evaluate the efficacy of intralesional metronidazole (5%) in comparison with intralesionalmeglumineantimonate in the treatment of cutaneous leishmaniasis. Methods: In the current study 40 patients with cutaneous leishmaniasis having upto 3 lesions on either upper limb, lower limb or trunk with a maximum diameter of 3cm in the longest dimension were included in the study and were randomly allocated to either group A (intralesional meglumineantimonate) or group B (intralesional metronidazole). Both treatments were given as intralesional injections on weekly basis, for 12 weeks. Patients were assessed and clinical photographs of the site of treatment were taken on every visit. The response was recorded according to the reduction in the size of the lesion, flattening of the lesion, change in colour, re-epithelialization and disappearance of signs of inflammation. More than 80% improvement to complete resolution of the lesion was considered as a cure. Results: At the end of 12 weeks of treatment 18 out of 20 (90%) patients in treatment group A (intralesional meglumine antimonite) were cured (mean 1.10, SD 0.308), while15 out of 20 (75%) patients responded to the treatment with intralesional metronidazole (mean 1.25, SD 0.444). Although, group A patients had a better cure rate than group B patients but the response to both treatments was found statistically significant and the p-value was 0.0001. Conclusion: This study denoted that cutaneous leishmaniasis best responds to intralesional meglumineantimonate butintralesional metronidazole is found to be a safe and effective alternative treatment for this chronic ailment.
Objective: To determine the efficacy of oral voriconazole in the treatment of dermatophyte infections (tinea corporis and cruris) Methodology: A total of 200 patients of both sex with age group 18-60 year having dermatophyte infection of body and groin were enrolled in this study. Each patient was given oral voriconazole 200 mg twice a day (tablet vorif 200 mg) for two weeks. Follow up was done at end of 2nd, 4th and 12 weeks. Efficacy was assessed clinically in the form of complete healing of lesion leaving behind post inflammatory pigmentation or normal skin. Study duration was 3 months. Patients were assessed for any possible side effects at each appointment. All of the patients were truly monitored and checked for their compliance to drug. The data was recorded on preformed Proforma for each patient. Results: Out of 200 cases, 133 were new, 42 were relapsing and 25 were resistant cases. Total efficacy was noted in 164 patients (82%) of all study cases. Male and female showed efficacy in 81% and 82% of cases respectively (Table 1). Patients belonging to age group 18-40 year showed 86 % efficacy and patients belonging to age group 41-60 year showed 76% efficacy (Table 2). From all new, relapsing and resistant study cases, 90 %, 71% and 58% showed efficacy to treatment respectively (Table 3). Conclusion: In our population oral voriconazole is efficacious in the treatment of tinea corporis and cruris. Keywords: Dermatophytes, Efficacy, Voriconazole
Introduction: Oral lichen planus (LP) is a chronic inflammatory condition and this inflammation leads to alteration in lipid metabolism and increase the cardiovascular risk factors. Objective: To determine the prevalance of dyslipidemias in patient with oral lichen planus coming in dermatology outdoor of Sheikh Zayed Hoapital Rahim Yar Khan. Methods: It was a case control study that was conducted at Department of Dermatology, Sheikh Zayed Hospital Rahim Yar Khan during October 2016 to April 2017. In this study there were total 50 cases of oral LP and 50 controls of both genders with age range of 15 to 60 years. The cases of both the groups underwent fasting lipid profile in terms to look for serum total cholesterol, triglyceride, LDL cholesterol and HDL cholesterol. Results: In this study there were total 100 cases out of which 50 were cases of oral LP and 50 were controls. In cases groups there were 27 (54%) males and 23 (46%) females while in control group there were same number of males and females were taken with p= 0.85. The mean age in case group was 37.22±8.15 years while in control group was 35.66± 7.78 years while the mean BMI was 24.42±2.21 and 25.11±3.01 respectively. The mean difference in cases and controls in terms of serum total cholesterol, TG, HDL Cholesterol and LDL cholesterol was found statistically significant. Conclusion: Dyslipidemias are common in cases with oral lichen planus and all its parameters have significant association with it especially TG. Keywords; LP, Dyslipidemia, LDL, HDL, TG
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