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1.
Glob Pediatr Health ; 11: 2333794X241251644, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38694564

RESUMO

Background. Autoimmune hepatitis (AIH) is increasingly seen in children worldwide and it is more severe in children compared to adults. This study highlights the biochemical and clinical aspect, treatment given and outcome of the disease including pediatric liver transplantation. Study. Retrospective review (2012-2022) was done in Shifa International Hospital, Islamabad. Patients under 18 years diagnosed with AIH were included. Data related to age, gender, clinical features, laboratory investigations including liver function test, liver biopsy findings and imaging modalities were included. Results. Fifteen patients were included 7 (47%) were males and 8 (53%) females. AIH type 1 was the most common type seen in 7 (46%), AIH type 2 in 5 (33%) and seronegative in 3 (20%). Jaundice was the most common symptom. Liver biopsy showed findings characteristic of AIH. Liver transplant performed in 3 patients. Conclusion. The study highlights the varied clinical presentation of AIH in Pakistani children.

2.
Clin Med Insights Pediatr ; 18: 11795565241236176, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38456192

RESUMO

Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. Design: Retrospective observational study. Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results. Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis. Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.

3.
Pediatr Transplant ; 28(1): e14634, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37936530

RESUMO

INTRODUCTION: Liver transplantation (LT) has emerged as a lifesaving modality for many liver diseases in children. Pediatric LT is an established treatment in the Western world but is relatively a new procedure in resource-limited countries like Pakistan. The study aims to highlight the outcomes and survival of pediatric recipients from the first pediatric liver transplant center in Pakistan. METHOD: A retrospective analysis of pediatric LT was done from 2012 to 2019. The study was conducted in the Hepatobiliary and liver transplant department of Shifa International Hospital (SIH), Islamabad. A detailed analysis for indications for pediatric LT, survival, and complications was done. RESULTS: Forty-five patients under 18 years of age underwent Living donor liver transplant (LDLT) in SIH. Median age was 9 years and M:F of 2:1. Cryptogenic liver disease followed by Wilson disease were the two most common indications of LT. The majority of patients had chronic liver disease 34 (75%) while 11 (24%) had acute liver failure. The right lobe graft was the most common type of graft 19 (42.2%). Thirty days, 1-year, 3-year, and 5-year survival was 77.8%, 75.6%, 73.3%, and 60.6% respectively. Mortality was highest in patients with biliary atresia 4 (33%). Causes of death included pulmonary embolism, sepsis, surgical complications, and acute kidney injury. Mean survival was 88.850 months (±7.899) (CI 73.369-104.331). CONCLUSION: Pediatric LDLT has offered disease-free survival for patients. Survival can improve further with nutritional rehabilitation and anticipation and management of post-operative complications.


Assuntos
Degeneração Hepatolenticular , Transplante de Fígado , Criança , Humanos , Adolescente , Transplante de Fígado/métodos , Doadores Vivos , Estudos Retrospectivos , Paquistão , Região de Recursos Limitados , Resultado do Tratamento , Sobrevivência de Enxerto
4.
Pak J Med Sci ; 39(2): 456-459, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36950417

RESUMO

Objectives: This study was done to compare the clinical features, laboratory findings and surgical outcomes of pediatric patients with choledochal cysts. Methods: Retrospective review of the hospital records of all pediatric patients admitted with choledochal cysts from 2011 to 2021 were collected and analyzed. Patients were divided into two groups; infant (less than one year age) and pediatric (1 to 16 years) for statistical comparison of two groups. Result: The study included 34 children, 9 (26.5%) were infant (<1 year) and 25 (73.5%) were more than one year old. Mean age at diagnosis was 15 months with age ranging from 14 days to 16 years. Females were 19 (55.9%) and males were 15 (44.1%). Type-I choledochal cyst was the most common (73.5%), presentation followed by Type-IVA (26.5%) in our patients. Patients from infant group presented with jaundice in 7 (77.7%), and clay-colored stool in 3 (33.3%) as the most common clinical features, while abdominal pain (88%), vomiting (72%), fever (32%) and pancreatitis (32%) were the frequent presentations among older age group. Post-surgical complications of excision of choledochal cyst were observed in 4 (11.7%) patients. Conclusion: Choledochal cysts have variable presentations depending upon age of the patients. Complete surgical excision of choledochal cyst is the treatment modality of choice and timely surgical management can prevent complications.

5.
Pediatr Transplant ; 27(1): e14357, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35831918

RESUMO

BACKGROUND: Biliary atresia (BA) is the most common cause of neonatal cholestatic syndrome. The true incidence of BA in Pakistan is largely unknown. AIM: This study aimed to report the clinical features, age at diagnosis and outcomes of biliary atresia from the first pediatric liver transplant center in Pakistan. METHODS: The study was done in Shifa International hospital from 2013 to 2020. All babies who had biliary atresia confirmed by laboratory investigation were included. Demographic data, age of presentation, clinical presentation, supporting investigations like liver function tests, ultrasound abdomen, HIDA scan and liver biopsy were noted. Outcome related to Kasai portoenterostomy, liver transplant, complications and immunosuppressant agents were noted. RESULT: A total of 42 children were included, 23 (54.7%) males and 19 (45.2%) were females. Jaundice was seen in all patients (100%) followed by acholic stools (81%). Associated malformations were noted in 6 (14.2%) patients. Liver function tests confirmed obstructive cholestasis (p 0.04). Kasai was done in 19 (45%) patients only, living donor liver transplant was performed in 6 (14%) patients. Age range of transplant patients was from 3 months to 1 year. Indication for liver transplant was failed Kasai in 1(16.7%) patient and chronic liver disease in 5 (83.3%) patients. LDLT survivors were 10 months to 1 year of age at the time of transplant, mean age was 10.6 months. Maximum survival noted so far is 7 years. Acute complications seen post-transplant were sepsis (three patients), surgical site infections (two patients), biliary leaks and acute cellular rejection in one patient each. Chronic graft rejection, portal vein stricture needing stenting was done in one patient. DISCUSSION: All patients underwent LDLT from related donors wih no donor related mortality. All are deceased patients were yonger and had advanced disease. BA remains third most commo indication of transplant in our center. CONCLUSION: Liver transplant is the only lifesaving procedure after failed Kasai or as primary liver transplant due to advance liver disease. The advent of liver transplantation services offers survival and improving outlook of the disease.


Assuntos
Atresia Biliar , Colestase , Transplante de Fígado , Criança , Lactente , Masculino , Feminino , Humanos , Recém-Nascido , Atresia Biliar/complicações , Atresia Biliar/cirurgia , Transplante de Fígado/métodos , Paquistão , Resultado do Tratamento , Doadores Vivos , Colestase/etiologia , Portoenterostomia Hepática/efeitos adversos , Portoenterostomia Hepática/métodos , Estudos Retrospectivos
6.
J Pediatr Endocrinol Metab ; 36(2): 152-157, 2023 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-36524979

RESUMO

OBJECTIVES: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries. METHODS: Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in the Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan. RESULTS: Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9-24) months. Mean age of presentation to endocrine department was 5.5 (1.5-11.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal/high 25(OH)D and tubular reabsorption of phosphate (TRP) <85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol. CONCLUSIONS: We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Raquitismo Hipofosfatêmico , Raquitismo , Criança , Pré-Escolar , Humanos , Lactente , Masculino , 25-Hidroxivitamina D3 1-alfa-Hidroxilase/genética , Calcitriol/uso terapêutico , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Raquitismo Hipofosfatêmico Familiar/genética , Mutação , Raquitismo/diagnóstico , Raquitismo/tratamento farmacológico , Raquitismo/genética , Raquitismo Hipofosfatêmico/tratamento farmacológico , Vitamina D/uso terapêutico , Feminino
7.
Pak J Med Sci ; 38(7): 1738-1742, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36246690

RESUMO

Objectives: Cerebral palsy is a major cause of neurodisability in children in Pakistan. The study aims to evaluate the risk factors, types and neuroimaging findings in children with cerebral palsy. Methods: All children diagnosed with cerebral palsy, between 1-16 years presenting to Shifa community health center were enrolled from January 2020 to July 2021. Informed consent was taken from parents. Results: A total of 89 patients were included, 62 (69.7%) male and 27 (30.3%) females. Mean age was 4.4 ± 2.8 years. Majority of babies were born at term 74 (84%) and 15 were preterm (16%). Most of the patients were born in hospital 55 (62%), 13 (14%) were born at home. Mean birth weight was 2.3 ± 0.3. Consanguinity was present in 56 (62.9%). Birth asphyxia 38 (42.7%) was the most common cause of cerebral palsy. Maternal antenatal risk factors identified were anemia 13 (14.6%), PIH (9%) infections (6%) were significant risk factors (<0.05). Neuroimaging was done in 37 (38.7%) of the patients only. Conclusion: Male gender is more affected in our cohort. Maternal anemia, pregnancy induced hypertension and low birth weight are significant modifiable risk factors. Prevention of these can reduce the incidence of cerebral palsy.

8.
Clin Med Insights Pediatr ; 16: 11795565221120565, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36051813

RESUMO

Celiac disease (CD) is a chronic autoimmune condition with intestinal and extra-intestinal features. Extra intestinal features including hematological, neurological, and endocrine symptoms are seen more frequently in elder children. A 4 years 7 months old male child presented in clinic with history of abdominal pain and diarrhea on and off for 1 year. On examination, he was hemodynamically stable, pale, and malnourished with distended abdomen. He was investigated for CD, Anti TTG IgA <0.1 (positive >10), Anti TTG IgG 13 (positive >10). To confirm celiac disease, Esophagogastroduodenoscopy (EGD) was done which was consistent with diagnosis of Celiac disease (MARSH Type 3a). Gluten free diet was advised. Later, after 12 days he again presented with jaundice, fever, anorexia, and dark colored urine and irritability. He was admitted for fulminant hepatic failure, his workup revealed direct hyperbilirubenemia, ANA +ve, and hyper IgG. Liver biopsy confirmed autoimmune hepatitis. Further workup for anemia showed reticulocyte count 7.1, LDH 423, direct and indirect coombs test was positive confirming autoimmune hemolytic anemia. Child responded well to Azathioprine and prednisolone with clinical improvement. We report a rare presentation of celiac disease with polyautoimmunity in a young child. Case reports of autoimmune hepatitis with CD patients have been reported in adult patients. Association of celiac disease with autoimmune hemolytic anemia and autoimmune hepatitis is a distinct and rare condition.

9.
J Pediatr Endocrinol Metab ; 35(5): 669-672, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-35405772

RESUMO

OBJECTIVES: Primary hypertriglyceridemia is a rare condition in children. Hypertriglyceridemia induced pancreatitis is most commonly reported in adults, accounting for third most common cause after gallstones and alcohol consumption. The study aims to highlight the frequency of hypertriglyceridemia induced pancreatitis in a cohort of children presenting in a tertiary care hospital. METHODS: A retrospective review of paediatric patients with pancreatitis was conducted in Shifa International hospital, Islamabad, from 2013 to 2020. All patients under 18 years of age who fulfilled the inclusion criteria were included. Medical records of patients were checked for symptoms, signs, age, growth parameters and laboratory investigations. Patients who had HTG were reviewed in detail for family history of pancreatitis or dyslipidemias. RESULTS: We found a cohort of 6 patients with primary hypertriglyceridemia after excluding secondary causes. Out of these 6 patients, 4 (66.6%) were male and 2 (33.3%) were female. Minimum age of our patient was 2 months and maximum was 17 years with a mean age of 6.5 years. Two patients presented less than one year of age. Mean triglyceride levels was 1,599 + 523 mg/dL. Four patients (66.6%) had acute pancreatitis, one each (16.6%) had recurrent and chronic pancreatitis. Family history was positive for hyperlipidaemia in two patients who had positive consanguinity. Patients with positive family history were symptomatic at earlier age. CONCLUSIONS: This is the first study to highlight primary hypertriglyceridemia presenting as pancreatitis in paediatric population from Pakistan. All patients had triglycerides level of greater than 1000 mg/dL.


Assuntos
Hiperlipidemias , Hipertrigliceridemia , Pancreatite , Doença Aguda , Adolescente , Adulto , Criança , Feminino , Humanos , Hiperlipidemias/complicações , Hipertrigliceridemia/complicações , Hipertrigliceridemia/epidemiologia , Lactente , Masculino , Paquistão/epidemiologia , Pancreatite/diagnóstico , Pancreatite/epidemiologia , Pancreatite/etiologia , Estudos Retrospectivos , Triglicerídeos
11.
Ann Transplant ; 26: e932606, 2021 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-34608110

RESUMO

BACKGROUND Wilson disease (WD) is a rare genetic disorder with vast clinical presentations and a higher incidence in areas where consanguinity is common. Most patients can be treated with oral chelation, but some require advanced surgical intervention, like liver transplantation (LT). This study aims to review outcomes of WD patients presenting to a tertiary care center over a period of 10 years. MATERIAL AND METHODS This retrospective analysis was conducted at Shifa International Hospital, Islamabad, Pakistan. Patients <18 years who were diagnosed with WD per ESPAGHAN guidelines from 2010 to 2020 were included. Presentation, diagnosis, treatment, and LT and its complications were recorded. Follow-ups were recorded, and patients were contacted by phone in cases of interrupted follow-up. Frequencies and percentages of variables were calculated. RESULTS A total of 48 patients with WD were identified. Symptomatic disease was seen in 45 patients, with 3 diagnosed on screening. The hepatic form was common (62.2%). Mean age at diagnosis was 9.74 (range 5-17) years, 28 (58.3%) were male, while 17 (35.4%) were female. Urinary copper was increased in all patients (645.82±528.40). Oral treatment with penicillamine was given to 34 (75.5%) patients; 4 (8.9%) died while on oral treatment. Living donor LT was performed in 11 (22.9%) patients, who had a mean King's Wilson index of 11 (range, 6-14). Currently, all LT patients are alive, with maximum graft survival of 7 years. CONCLUSIONS LT offers a promising treatment with good outcomes in pediatric WD. However, timely diagnosis and management with oral chelation therapy can prolong survival without LT.


Assuntos
Terapia por Quelação , Degeneração Hepatolenticular , Transplante de Fígado , Adolescente , Criança , Pré-Escolar , Feminino , Degeneração Hepatolenticular/tratamento farmacológico , Degeneração Hepatolenticular/cirurgia , Humanos , Masculino , Paquistão , Estudos Retrospectivos
12.
J Ayub Med Coll Abbottabad ; 33(1): 30-33, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33774950

RESUMO

BACKGROUND: Wilson's disease is a genetically transmitted disease and has a variety of clinical manifestations. We evaluated the various clinical and biochemical presentations of Wilson's disease (WD) at different ages. METHODS: This cross-sectional study was conducted in Shifa international hospital and Shifa Foundation Falahi Clinic (SFFC), Islamabad. Data from Jan 2010 to Dec 2018 was retrieved from hospital medical record on a structured proforma. All patients who had twenty-four hours urinary copper level of ≥100 mcg/day were included in the study. Their presenting symptoms, clinical signs and lab investigations were noted. RESULTS: Mean age was 13±4.588 years. Male to female ratio was 1.5:1. Hepatic disease was seen in 35 (68.6%) patients mainly in <10 yrs age group. Pure neurological Wilson's was seen in 14 (27.45%) cases, which were >10 years of age while 18(35.3%) had hepato-neurological manifestations. Keyser Fleischer rings were present in 26 (51%) of total patients and 14 (100%) of neurological cases. Hepatic transaminases were elevated in 36 (70 %) patients. Low serum cerruloplasmin was seen in 37 (72.5%) cases. Mean value of haemoglobin was 10.38±2.772. Mean 24 hours urinary copper was 597.6±605.446. Consanguinity was seen among 33 (64.7%) families. Family history of WD was positive in 21 (41.2%) patients. CONCLUSIONS: Hepatic form of WD is more common, yet neurological presentation is seen in patients >10 years of age.


Assuntos
Degeneração Hepatolenticular , Adolescente , Criança , Consanguinidade , Estudos Transversais , Feminino , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/epidemiologia , Degeneração Hepatolenticular/patologia , Degeneração Hepatolenticular/fisiopatologia , Humanos , Testes de Função Hepática , Masculino , Paquistão , Centros de Atenção Terciária
13.
Pak J Med Sci ; 36(6): 1252-1256, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32968389

RESUMO

OBJECTIVES: To determine etiologies, clinical presentations and outcomes of children with fulminant hepatic failure in the first liver transplant center of Pakistan. METHODS: It was a retrospective, observational study, conducted in Paediatric Gastroenterology Department of Shifa International Hospital. Patients between one month to 16 years were included who fulfilled the Pediatric Acute Liver Failure study group (PALFSG) definition of acute liver failure as biochemical evidence of liver injury with no known co-existing chronic liver disease, coagulopathy not corrected by vitamin K, an International Normalized Ratio (INR) greater than 1.5 if the patient has encephalopathy, or greater than 2.0 if the patient does not have encephalopathy. The data collected was recorded on a self-constructed proforma after IRB approval. RESULTS: There were 28 patients in the study which ncluded 17 males and 11 females with a mean age of 72.86±52.50 months. The most common etiologies were Hepatitis A (29%) in isolation or co-infection with Wilson Disease, typhoid fever. It was followed by seronegative hepatitis (29%). Majority (64%) had acute presentation (7 to 28 days), jaundice (82%) being the most common symptom. Severity of encephalopathy was significantly associated with outcome (p=0.02). There were 6 (21%) patients who succumbed to death. CONCLUSIONS: The study highlights infective diseases as the predominant etiology causing fulminant liver failure in children. Our study highlights lower mortality in children.

14.
J Pak Med Assoc ; 70(12(B)): 2412-2415, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33475554

RESUMO

OBJECTIVE: To determine the clinical presentation, aetiology and outcome of pancreatitis in paediatric population. METHODS: The retrospective study was conducted at Shifa International Hospital, Islamabad, Pakistan, and comprised data of children with pancreatitis presenting between 2013 and 2018. Medical records were reviewed and findings of clinical, laboratory workup and management were noted on a specifically developed proforma. Data was analysed using SPSS 23. RESULTS: Of the 51 subjects, 28(54.9%) were boys. The overall mean age was 10.6±4.9 years. The most frequent clinical symptom was epigastric pain 39(76.5%). The most common aetiology was gallstones/pancreatic stones 19(37.25%). Mean hospital stay was 5.1±1.8 days, and it was longer in children aged up to 5 years compared to older children (p<0.05). Acute pancreatitis was seen in 23(45.09%) patients, followed by recurrent 19(37.25%) and chronic 9(17.64%). There was no mortality. CONCLUSIONS: Timely diagnosis and prompt management of haemodynamic status could lead to successful recovery without any serious complications in paediatric pancreatitis.


Assuntos
Pancreatite Crônica , Doença Aguda , Adolescente , Criança , Pré-Escolar , Humanos , Masculino , Paquistão/epidemiologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/epidemiologia , Pancreatite Crônica/etiologia , Estudos Retrospectivos
15.
J Pak Med Assoc ; 69(11): 1759-1761, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31740899

RESUMO

Acute recurrent pancreatitis is a rare entity in children. It can be caused by a number of reasons, anatomical variations being one of them. Panctreatica divisum is the most common form of ductal anomaly while ansa pancreatica has been the least studied and explored. In recurrent pancreatitis, Ansa Pancreatica was recently found to be a key risk factor. It is usually found among adult alcoholics. We submit the report of a rare but important cause of acute recurrent pancreatitis; an 11-year-old child with 2 previous episodes of pancreatitis was diagnosed with ansa pancreati ca on magnetic resonance cholangiopancreatography (MRCP). He was advised to get stenting of Pancreatic duct. To the best of our belief, only another case has been reported in the paediatric population.


Assuntos
Pâncreas , Pancreatite Crônica , Antibacterianos/uso terapêutico , Criança , Colangiopancreatografia por Ressonância Magnética , Humanos , Masculino , Pâncreas/anormalidades , Pâncreas/diagnóstico por imagem , Pâncreas/cirurgia , Pancreatite Crônica/diagnóstico por imagem , Pancreatite Crônica/tratamento farmacológico , Pancreatite Crônica/fisiopatologia , Pancreatite Crônica/cirurgia
16.
J Coll Physicians Surg Pak ; 28(9): S195-S197, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30173696

RESUMO

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. This defect can involve any organ system, especially lungs, brain and liver; but hepatic vascular malformations in HHT usually remain silent until fifth or sixth decade of life. However, if symptomatic, it usually results in only mild liver dysfunction in adults. Herein, we report a rare case showing extensive hepatic involvement in HHT leading to hepatic failure at a younger age. Hepatic screening is traditionally not recommended at early age while pulmonary and cerebral screening must be done. Based on this case, we recommend hepatic screening even in a young patient with HHT.


Assuntos
Falência Hepática/complicações , Fígado/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/diagnóstico , Pré-Escolar , Epistaxe/etiologia , Humanos , Fígado/fisiopatologia , Masculino , Tomografia Computadorizada por Raios X
17.
J Pak Med Assoc ; 67(2): 266-269, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28138183

RESUMO

OBJECTIVE: To document spectrum of paediatric liver disorders confirmed on liver biopsy. METHODS: The retrospective review of patients was conducted at Shifa International Hospital, Islamabad, Pakistan, and comprised data of all children who underwent ultrasound-guided percutaneous liver biopsy between December 2008 and June 2015. Frequency of individual diagnosis was assessed and compared on gender basis. SPSS 16 was used for statistical analysis. RESULTS: There were medical records of 74 patients in the study with an overall median age of 6.9 years (interquartile range: 0.2-17.7 years). Metabolic 27(36.5%) and inflammatory 19(25.6%) disorders were the most common aetiologies. At presentation 29(39.1%) patients had cirrhosis; and 25(34%) children were <5 years of age. Metabolic disorders were the most common aetiology in children upto 10 years of age with 19(25.6%) patients. Above the age of 10 years, inflammatory disorders were more frequent and were seen in 10(13.5%). Based on gender, a trend towards significance was observed for metabolic disorders (p=0.08) and children who presented with cirrhosis (p= 0.07), but it was not statistically significant. CONCLUSIONS: Metabolic disorders were the most common cause of liver disorders. A number of children at presentation had underlying cirrhosis.


Assuntos
Inflamação , Hepatopatias , Doenças Metabólicas , Adolescente , Biópsia , Criança , Pré-Escolar , Humanos , Lactente , Inflamação/complicações , Inflamação/epidemiologia , Hepatopatias/diagnóstico , Hepatopatias/epidemiologia , Hepatopatias/etiologia , Hepatopatias/patologia , Doenças Metabólicas/complicações , Doenças Metabólicas/epidemiologia , Paquistão/epidemiologia , Estudos Retrospectivos
18.
J Coll Physicians Surg Pak ; 26(6): 476-80, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27353983

RESUMO

OBJECTIVE: To determine the outcomes of paediatric living donor liver transplantation (LDLT) recipients from Pakistan in terms of 90-day morbidity and mortality. STUDY DESIGN: Cohort study. PLACE AND DURATION OF STUDY: Shifa International Hospital, Islamabad, Pakistan, between April 2012 and April 2015. METHODOLOGY: All patients in paediatric age group (≤ 17 years) who underwent LDLT with a minimum follow-up of 3 months, were included. All grade 2 and above complications on Clavien-Dindo system were included as morbidity. The main outcome measure was 90-day morbidity and mortality. RESULTS: Fourteen paediatric LDLTs were performed. Median age of the recipients was 8.5 years ranging between 6 months and 17 years. Wilson's disease and cryptogenic cirrhosis were the most common etiologies (28.6% each). Acute liver failure was present in 5 (35.7%) patients. Overall 90-day morbidity and mortality was 71.4% and 14.2%; both were attributable to pulmonary infection. No difference was observed in morbidity (21.3% vs. 42.8%, p=0.3) and mortality rates (20% vs. 11%, p=1.0) between patients with acute and chronic liver failure. Estimated 3-year survival was 85%. CONCLUSION: Paediatric LDLT offers a promising treatment option for acute and chronic liver failure. Mortality was attributable to post-transplant pulmonary infections.


Assuntos
Falência Hepática/mortalidade , Falência Hepática/cirurgia , Transplante de Fígado/mortalidade , Doadores Vivos , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Sobrevivência de Enxerto , Humanos , Lactente , Masculino , Paquistão/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Índice de Gravidade de Doença , Análise de Sobrevida , Resultado do Tratamento
19.
J Pak Med Assoc ; 66(5): 615-7, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27183949

RESUMO

Auxiliary partial orthotopic liver transplant (APOLT) is a treatment option for certain liver disorders where liver structure is preserved. It includes Criggler Najjar syndrome (CNS), urea cycle defects and familial hypercholesterolaemia. Liver transplant as a treatment modality has only recently become available in Pakistan. Here we report two paediatric cases of CNS type 1 where auxiliary liver transplant was performed to correct jaundice and prevent inevitable brain damage. Both recipients and their respective living donors had successful surgery and are doing well.


Assuntos
Cardiomiopatias/cirurgia , Genitália/anormalidades , Transplante de Fígado/métodos , Criança , Feminino , Genitália/cirurgia , Humanos , Doadores Vivos , Masculino , Resultado do Tratamento
20.
J Coll Physicians Surg Pak ; 20(1): 33-6, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20141690

RESUMO

OBJECTIVE: To observe and compare the Tympanic Temperature (TT) readings with the Oral Mercury Thermometer (OMT) in an OPD setting. STUDY DESIGN: Observational comparative study. PLACE AND DURATION OF STUDY: The Outpatient Department, Shifa International Hospital, Islamabad, from June to September 2008. METHODOLOGY: By consecutive sampling, 2000 OPD patients were included in the study. Both tympanic membrane and oral cavity temperatures were recorded in each patient. Patients were grouped into four age classes i.e. 5-16, 17-40, 41-60 and above 60 years. Taking the oral temperature as a standard, tympanic temperature recordings were analyzed in each age group for afebrile and febrile temperature ranges. An intra-class Pearson's correlation coefficient (r) was calculated for closeness of correlation of TT with OMT in each group. RESULTS: Mean age of the sample was 31.84+/-19.42 years. Mean temperature reading from the OMT was 36.732+/-0.66 degrees C, while the mean TT reading was 36.575+/-0.71 degrees C. Overall correlation between OMT and TT readings was 0.871 (p<0.001); higher correlation was found in children as compared to adults. In the febrile range, a strongly positive correlation of TT with OMT in the 5-16 years age group (r=0.945) was seen. A poor correlation of TT with OMT was noted for 41-60 and 60 plus groups (r=0.394 and 0.342 respectively). TT was found to have very high specificities in all age groups; highest of 100 in 17-40 years age group. The sensitivities were generally low, the lowest being 33.33 in 60 plus age group. CONCLUSION: TT measurement is a quick method for temperature recording in a busy OPD. However, it is reliable mainly for a younger population.


Assuntos
Febre/diagnóstico , Termômetros , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Membrana Timpânica , Adulto Jovem
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