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JPMA. the Journal of the Pakistan... Jun 2024Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to...
Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to longer upper lid, than the lower lid. Overriding leads to spontaneous eversion of the upper lids. In our patient, examination revealed canthal tendon laxity and hyperaemia of the tarsal conjunctiva. All the rest of the structures in the eyeball and adnexa were normal. Spontaneous eversion occurred in two weeks as the upper lid grew with time. No treatment was required.
Topics: Humans; Pakistan; Eyelids; Female; Male; Eyelid Diseases; Infant, Newborn
PubMed: 38948995
DOI: 10.47391/JPMA.9457 -
JPMA. the Journal of the Pakistan... Jun 2024Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency disorder with different phenotypes and aetiologies. It is characterised by...
Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency disorder with different phenotypes and aetiologies. It is characterised by hypogammaglobulinaemia, defects in specific antibody response, erroneous activation and proliferation of T cells, leading to increased risk of recurrent infections. In CVID, "Variable" refers to the heterogeneity of clinical presentations, which include recurrent infections, autoimmunity, enteropathy, and increased risk of malignancies. This wide spectrum of disease manifestations and being a diagnosis of exclusion poses a diagnostic challenge. It is pertinent to mention that CVID along with associated complications is the commonest symptomatic primary antibody deficiency but is scarcely mentioned in local literature. The main aim of presenting this case is to impress upon the importance of systematic immunological workup in cases of suspected immunodeficiency to prevent morbidity and mortality.
Topics: Humans; Common Variable Immunodeficiency; Developing Countries; Male; Female; Adult
PubMed: 38948994
DOI: 10.47391/JPMA.9376 -
JPMA. the Journal of the Pakistan... Jun 2024The most common twin ectopic pregnancy is heterotopic (1/7000). We are reporting a rare case of twin tubo-ovarian ectopic pregnancy, which was presented in the emergency...
The most common twin ectopic pregnancy is heterotopic (1/7000). We are reporting a rare case of twin tubo-ovarian ectopic pregnancy, which was presented in the emergency department of Ayub Teaching Hospital Abbottabad. A 30- year-old female arrived with worsening lower abdominal pain persisting for three weeks. She also had per-vaginal bleeding with passage of clots 1week ago. Clinical examination revealed a tense abdomen with tenderness in the left iliac fossa. Per-vaginally, there was cervical motion tenderness and fullness in the posterior fornix. Beta HCG level revealed a sub-optimal rise whereas Transabdominal ultrasound showed an echogenic shadow in the left ovary. The uterus appeared normal. On exploratory laparotomy a large left ovarian mass was seen with ruptured chronic right tubal pregnancy with adhesions. On cut-section of the ovary, a small foetus was evident. We have concluded that in case of subacute abdominal pain and an-echogenic mass on ultrasonography in reproductive age contralateral adnexa should be accessed to exclude contralateral ectopic pregnancy.
Topics: Humans; Female; Pregnancy; Adult; Pregnancy, Twin; Pregnancy, Tubal; Pregnancy, Ovarian; Abdominal Pain; Ultrasonography
PubMed: 38948993
DOI: 10.47391/JPMA.9355 -
JPMA. the Journal of the Pakistan... Jun 2024Giant cell tumour is a growth predominantly found in long bones of the body. Giant cell tumour has a rare occurrence in the head and neck. A case of a 31 year old male...
Giant cell tumour is a growth predominantly found in long bones of the body. Giant cell tumour has a rare occurrence in the head and neck. A case of a 31 year old male with no known comorbidities at the ENT Department, Shifa International Hospital, Islamabad presented with anterior neck swelling and hoarseness of voice. Patient was diagnosed as having Giant Cell Tumour of Larynx (GTCL) proven on FNA cytology and post-operative biopsy. GCTL is an uncommon entity with only 45 reported cases in the world.
Topics: Humans; Male; Laryngeal Neoplasms; Adult; Giant Cell Tumors; Laryngeal Cartilages; Hoarseness
PubMed: 38948992
DOI: 10.47391/JPMA.10483 -
JPMA. the Journal of the Pakistan... Jun 2024Bladder cancer is the ninth leading cause of death worldwide and 14th leading cause of death in Pakistan. The objective of this study was to determine the frequency of...
Bladder cancer is the ninth leading cause of death worldwide and 14th leading cause of death in Pakistan. The objective of this study was to determine the frequency of urothelial carcinoma in various age groups, its gender distribution, and grades. A total of 131 cases of urothelial carcinoma, received at Department of Pathology, Peshawar Medical College, Peshawar, between January 2017 to December 2022, were included in the study; of them 107 (81.6%) were males while 24 (18.3%) were females with a mean age of 62±13 years. The most common histological subtype was papillary urothelial carcinoma in 117(89.3%) cases, followed by Squamous and Glandular in 5(3.8%) cases. Majority of the urothelial carcinoma with high grade showed a statistically significant relation with muscle invasion 38 (50.66%). Males were four times more likely to have urothelial carcinoma while older age groups were more likely to have high grade urothelial carcinoma.
Topics: Humans; Pakistan; Male; Female; Middle Aged; Aged; Tertiary Care Centers; Urinary Bladder Neoplasms; Carcinoma, Transitional Cell; Adult; Neoplasm Grading; Aged, 80 and over; Neoplasm Invasiveness; Carcinoma, Papillary; Sex Distribution; Age Distribution; Carcinoma, Squamous Cell
PubMed: 38948990
DOI: 10.47391/JPMA.9546 -
JPMA. the Journal of the Pakistan... Jun 2024Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary... (Review)
Review
Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes. Delayed diagnosis leads to complications, such as cardiac attacks, respiratory problems, neuro-developmental disorders, intellectual disability, and even premature death. The burden of such inherited disorders is quite high in developing countries of South Asia due to high rate of consanguinity in the region. Unfortunately, such disorders are left untreated due to the lack of screening facilities in such countries. The current narrative review was planned to highlight the urgent need for closing this gap and implementing effective newborn screening programmes for organic acid disorders in developing countries. The implementation of effective programmes is crucial for reducing morbidity and mortality, and for improving the quality of life for the affected children and of their families, thus promoting global health equity.
Topics: Humans; Neonatal Screening; Infant, Newborn; Developing Countries; Metabolism, Inborn Errors; Amino Acid Metabolism, Inborn Errors
PubMed: 38948986
DOI: 10.47391/JPMA.10223 -
JPMA. the Journal of the Pakistan... Jun 2024Functional neurological disorder is a condition in which a person experiences physical symptoms that cannot be fully explained by a medical condition. In Pakistan,... (Review)
Review
Functional neurological disorder is a condition in which a person experiences physical symptoms that cannot be fully explained by a medical condition. In Pakistan, domestic violence as well as emotional, physical and sexual abuse in children are prevalent. Despite legal and social support for victims, stigmatisation regarding seeking psychological help complicates the challenge. Some of the research culminated that patients with neurological disorder reported high level of sexual abuse and trauma. The symptomatology of functional neurological disorder is being ignored in Asian countries due to indigenous factors like poverty, lack of information on reporting abuse, poor law-enforcement and victim blaming. Functional neurological disorder can be manifested in various ways in the human body, such as blindness, paralysis, dystonia, swallowing difficulties, difficulty walking, motor symptoms affecting limbs, voice production, problems in sensory functions, problems in cognitive function, psychogenic non-epileptic seizures and even dementia, whereas differential diagnosis is established after screening for organicity. The common risk factors of functional neurological disorder may include psychosocial stressors, family history of functional neurological disorder, and significant life changes. It is critical to understand the disorder in reference to predisposing risk factors, cultural context, comorbidities and gender specification to diagnose and treat functional neurological disorder in time so that better intervention protocols could be devised to treat it efficiently.
Topics: Humans; Pakistan; Child; Conversion Disorder; Nervous System Diseases; Child Abuse; Risk Factors
PubMed: 38948985
DOI: 10.47391/JPMA.10083 -
JPMA. the Journal of the Pakistan... Jun 2024To assess functional and aesthetic outcomes in patients having undergone dorsal nasal augmentation with costochondral graft in a tertiary care setting. (Observational Study)
Observational Study
OBJECTIVE
To assess functional and aesthetic outcomes in patients having undergone dorsal nasal augmentation with costochondral graft in a tertiary care setting.
METHODS
The single-centre, retrospective, observational study was conducted at Shifa International Hospital, Islamabad, Pakistan, and comprised data of patients who underwent dorsal nasal augmentation using costochondral graft between January 1, 2018, and December 31, 2022. Aesthetic outcomes in terms of patient satisfaction were assessed using Facial Appearance, Health-related Quality of Life and Adverse Effects scores. Data was analysed using SPSS 26.
RESULTS
Of the 46 patients, 28(61%) were males and 18(39%) were females. The overall mean age was 28.39±9.13 years. Dorsal nasal deficiency occurred secondary to congenital causes in 12(26.1%) patients, trauma 19(41.3%) and prior surgery 15(32.6%). Postoperative complication rate was 7(15%); 3(6.5%) had recipient site infection and 2(4.3%) had rib graft resorption. Besides, 1(2.2%) patient reported pain 2 months postoperatively and 1(2.2%) had hypertrophic scarring. Patient satisfaction with the outcome was noted in all the 10 parameters analysed. Most commonly reported problem was that the nose was 'looking thick/swollen' by 12(26.1%) patients, but the issue resolved during 1-year follow-up.
CONCLUSION
Costochondral graft was found to be an ideal material for dorsal nasal augmentation, with high patient satisfaction rate.
Topics: Humans; Female; Male; Adult; Rhinoplasty; Retrospective Studies; Patient Satisfaction; Young Adult; Adolescent; Postoperative Complications; Esthetics; Quality of Life; Nose; Treatment Outcome; Costal Cartilage; Cicatrix, Hypertrophic; Pain, Postoperative
PubMed: 38948980
DOI: 10.47391/JPMA.10844 -
JPMA. the Journal of the Pakistan... Jun 2024To assess short-term and long-term outcomes of endoscopic pilonidal sinus treatment for pilonidal sinus disease.
OBJECTIVES
To assess short-term and long-term outcomes of endoscopic pilonidal sinus treatment for pilonidal sinus disease.
METHODS
The prospective study was conducted at Shifa International Hospital, Islamabad, Pakistan, from July 2015 to July 2021, and comprised all pilonidal sinus cases undergoing minimal invasive endoscopic pilonidal sinus treatment who were treated by a single surgical team. The primary outcomes were duration of healing, post-operative morbidities, persistence of discharge and recurrence at 1-7 years. The secondary outcomes were operative time, return to work, cosmetic results and patient satisfaction. The patients were observed for wound healing and discharge on follow-up in the out-patient department at 1, 3, 6 and 24 weeks. They were further followed up every year through telephonic survey for persistence or recurrence of symptoms. Patient satisfaction was assessed using the 36-item Short Form Survey questionnaire filled at admission and then at 6 weeks post-surgery. Data was analysed using SPSS 23.
RESULTS
Of the 67 patients, 55(82%) were males and 12(18%) were females. The overall mean age was 25.69±8.305 years. There were 13(19.4%) patients with a history of recurrent disease and previous procedures for pilonidal sinus, while 54(80.6%) had no previous surgery. The median operative time was 35 minutes (interquartile range: 20-45 minutes). Complete wound healing was achieved in 60(89.6%) patients, while recurrence was seen in 7(10.4%). The median time off work was 2.5 days (interquartile range: 1-3 days). Patient satisfaction with the procedure was significantly high (p<0.05).
CONCLUSIONS
Endoscopic pilonidal sinus treatment appeared to be a good minimally invasive surgical technique for the treatment of pilonidal sinus disease in terms of both short-term and long-term outcomes.
Topics: Humans; Pilonidal Sinus; Female; Male; Adult; Endoscopy; Prospective Studies; Patient Satisfaction; Recurrence; Young Adult; Operative Time; Wound Healing; Sacrococcygeal Region; Treatment Outcome; Adolescent; Pakistan; Postoperative Complications; Return to Work
PubMed: 38948976
DOI: 10.47391/JPMA.9948 -
JPMA. the Journal of the Pakistan... Jun 2024To evaluate the under-nutrition risk of children admitted to hospitals using a validated tool.
OBJECTIVES
To evaluate the under-nutrition risk of children admitted to hospitals using a validated tool.
METHODS
The cross-sectional study was conducted from September 2017 to June 2018 in the paediatrics wards of a tertiary referral paediatric government hospital, a tertiary teaching hospital and a government district hospital in Malaysia. The sample comprised paediatric patients aged 2-12 years within 24-72 hours of hospital admission. Data was collected using the 3-Minute Nutrition Screening-Paediatrics tool. Data was analysed using SPSS 20.
RESULTS
Of the 341 patients screened, 284(83.3%) were included; 170(59.9%) boys and 114(40.1%) girls. The overall median age was 4.85 years (interquartile range: 4.33 years). The median length of hospital stay was 3 days (interquartile range: 3 days). There were 72(25.4%) participants at high under-nutrition risk, with the highest proportion being at the district government hospital 31(33%). Among those with high risk, 5.4% subjects had severe acute malnutrition, 9.7% had severe chronic malnutrition, and 11.1% had severe thinness.
CONCLUSION
The 3-Minute Nutrition Screening-Paediatrics scale was found to be effective as a nutrition screening tool for hospitalised children in Malaysia.
Topics: Humans; Female; Male; Malaysia; Child, Preschool; Child; Cross-Sectional Studies; Nutrition Assessment; Hospitalization; Child Nutrition Disorders; Length of Stay; Nutritional Status; Malnutrition; Mass Screening; Thinness; Risk Assessment
PubMed: 38948974
DOI: 10.47391/JPMA.9616