scholarly journals An infant with 49XXXXY syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
N. P. G. C. R. Naotunna ◽  
C. Liyanage ◽  
N. Atapattu
Keyword(s):  
Care Center ◽  
Tertiary Care ◽  
Chromosome Analysis ◽  
Dehydroepiandrosterone Sulfate ◽  
Ambiguous Genitalia ◽  
Normal Vaginal Delivery ◽  
Sri Lankan ◽  
Pediatric Endocrinology ◽  
First Child

Abstract Background 49XXXXY syndrome is the rarest X chromosome aneuploidy, with approximate incidence of 1:85,000–100,000 male births. Worldwide, around 100 cases have been reported. In this report, we describe one such case seen in Sri Lanka. Case presentation A 10-day-old Sri Lankan neonate born in a tertiary care center was referred to the pediatric endocrinology unit of Lady Ridgeway Hospital due to detection of ambiguous genitalia at birth. He was the first child born to nonconsanguineous healthy parents following an uncomplicated antenatal period. He was born at term via normal vaginal delivery, with a birth weight of 2.385 kg. The baby was active, and there was no documented hypoglycemia or alteration in basic biochemical investigations. On examination, the child had hypertelorism, upslanting palpebral fissures, flat occiput, and mild webbing of the neck. System examination was normal. Genitalia examination revealed bifid scrotum, perineal urethra, 2 cm phallus, and bilateral testis in situ. Hormonal analysis, including dehydroepiandrosterone sulfate, testosterone, and 17-OH progesterone levels, was normal except for an elevated level of follicle-stimulating hormone, indicating gonadal dysgenesis. Ultrasound of the abdomen detected testis located at bilateral inguinal canal, and no Müllerian structures were visible. Echocardiography showed a small patent foramen ovale with otherwise normal heart. Chromosome analysis revealed 49XXXXY syndrome. Conclusion 49XXXXY syndrome should be entertained as a rare possibility for ambiguous genitalia, and karyotyping is an essential investigation for evaluation of such patients.

scholarly journals In situ reconstruction of an MRSA-infected paravisceral aortic pseudoaneurysm with cryopreserved aortic allograft

2019 ◽  
Vol 11 (2) ◽  
pp. 122-124
Author(s):  
Peter Banga ◽  
Peter Legeza ◽  
Zoltán Szeberin
Keyword(s):  
Care Center ◽  
Tertiary Care ◽  
Prosthetic Graft ◽  
Celiac Artery ◽  
Medical Documentation ◽  
Surgical Interventions ◽  
Aortic Pseudoaneurysm ◽  
Aortic Allograft ◽  
Aortic Replacement

Objectives Treatment of paravisceral aortic infections poses several challenges because standard therapy with excision of all infected tissues and extraanatomic reconstruction is frequently not possible without jeopardizing visceral perfusion. In situ reconstruction with rifampin-soaked prosthetic graft or endovascular repair with stent grafts runs the risk of reinfection. We present a case of a paravisceral aortic infection, where cryopreserved allograft was used for the reconstruction of the aorta. Methods Medical documentation and CT angiography studies were retrospectively reviewed for a patient in a tertiary care center. Results A 62-year-old male patient presented with an infected pseudoaneurysm of the paravisceral aorta at the level of the celiac artery. He had previously undergone multiple orthopedic surgical interventions and developed methicillin-resistant Staphylococcus aureus infections. We successfully repaired the paravisceral pseudoaneurysm with excision of all infected tissues and in situ aortic replacement with a cryopreserved allograft. Conclusion In case of infected aortic pseudoaneurysm, the use of cryopreserved aortic allograft is a reliable choice for reconstruction of the aorta.

scholarly journals Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt

2017 ◽  
Vol 8 (5) ◽  
pp. 75-80 ◽  
Author(s):  
Almontaser Hussein ◽  
Hekma Farghaly ◽  
Eman Askar ◽  
Kotb Metwalley ◽  
Khaled Saad ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Care Center ◽  
Tertiary Care ◽  
Hormone Deficiency ◽  
Growth Delay ◽  
Care Hospital ◽  
Pediatric Endocrinology ◽  
Etiological Factors ◽  
Detailed Medical History

Background: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature among children referred to the pediatric endocrinology clinic of Assiut University Children’s Hospital, the main tertiary care center in Upper Egypt. Methods: We conducted this descriptive observational study from May 2012 to December 2015, to analyze 637 children (boys 354, girls 283) with short stature. Evaluation included: detailed medical history, physical examination, laboratory tests, bone age and chromosomal analysis. Results: Endocrinological causes accounted for 26% of short stature [of them, 11.8% had growth hormone deficiency (GHD)], 63.6% had normal variants of growth [of them, 42% had familial short stature (FSS), 15.8% had constitutional growth delay (CGD) and 5.5% a combination of both]. Interestingly, celiac disease (CD) constituted 6.6% of children with short stature in our cohort. Conclusions: Although potentially treatable causes such as GHD, hypothyroidism and CD accounted for a considerable percentage of short stature in our study, the majority of short stature in children had normal variations of growth. Growth hormone treatment in children, however, should be promptly initiated with specific clinical indications. CD is a not uncommon cause of short stature.

Cleft Palate in a Newborn with Duplication 2(q13q23)

2004 ◽  
Vol 41 (5) ◽  
pp. 568-570 ◽  
Author(s):  
Sharon L. Wenger ◽  
Ona C. Bleigh ◽  
Marybeth Hummel
Keyword(s):  
Cleft Palate ◽  
Fluorescent In Situ Hybridization ◽  
Neonatal Intensive Care ◽  
De Novo ◽  
Tertiary Care ◽  
Chromosome Analysis ◽  
Chromosome 2 ◽  
Additional Material ◽  
Hybridization Test

Objectives A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2. Setting The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life. Results A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents’ chromosomes were normal, indicating a de novo duplication of 2q13q23. Conclusion Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13.

scholarly journals Pregnancy outcome in patients with fibroid: a retrospective study

2020 ◽  
Vol 9 (11) ◽  
pp. 4428
Author(s):  
Bintu H. Dadhania ◽  
Shital T. Mehta ◽  
Pushpa A. Yadava ◽  
Bina M. Raval ◽  
Bhavi S. Shah ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Preterm Labour ◽  
Care Center ◽  
Tertiary Care ◽  
Mode Of Delivery ◽  
Normal Vaginal Delivery ◽  
Delivery Mode ◽  
Age Group ◽  
Antenatal Period

Background: Fibroids are benign smooth muscle cell tumour of the uterus. In some patients of pregnancy associated with fibroid, it does not affect the outcome of pregnancy. On the other hand, various complications have been reported. The aim of our study was to evaluate the outcome in antenatal women with fibroids.Methods: This retrospective study was conducted at tertiary care center, obstetrics & gynecology department over a period of eighteen months between June 2018 to November 2019. Total 26 pregnant patients with >3 cm fibroid was included in the study. They were followed during antenatal period. Maternal age, parity, size of fibroid, complications during pregnancy, labour, and delivery, mode of delivery and indications of cesarean section were noted.Results: Out of 26 patients, 15 (57.6%) were between 26-30 years of age group and 16 (61.53%) were multigravidas. Normal vaginal delivery occurred in 8 (33.33%), while 16 (66.66%) delivered by caesarean section. There were 9 (34.61%) patients who had no complication whereas 17 (65.38%) had some complication. Pain was present in 8 (30.76%). PROM and preterm labour were present in 3 (18.75%) and 5 (19.23%) respectively. PPH was present in 2 (7.69%).Conclusions: Pregnant patients who have fibroids are to be carefully screened in the antenatal period, so as to have a regular follow up. The widespread use of ultrasonography has facilitated diagnosis and management of fibroids in pregnancy. The site and size of fibroid is very important to predict its effect on pregnancy.

scholarly journals Etiology of Increased Referrals for Evaluation of Early Puberty in a Tertiary Care Center in Turkey: True Precocious Puberty, Obesity, or Parental Anxiety and Lack of Knowledge?

2021 ◽  
Vol 8 ◽  
pp. 2333794X2110090
Author(s):  
Ayse Pinar Cemeroglu ◽  
Damlanur Kaval ◽  
Ozan Ozcan
Keyword(s):  
Precocious Puberty ◽  
Care Center ◽  
Pubertal Development ◽  
Tertiary Care ◽  
Parental Anxiety ◽  
Adrenal Hyperplasia ◽  
Pediatric Endocrinology ◽  
Early Puberty ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Timing Of Puberty

There has been a global increase in pediatric endocrinology referrals for the concerns of early puberty. The objective of this study was to determine the reasons behind this increase. A retrospective cross-sectional study was designed to analyze the clinical characteristics of patients seen for the concerns of early puberty in pediatric endocrinology clinic of a tertiary care center (Study A). Additionally, a prospective questionnaire study was designed to assess the knowledge and concerns of the mothers regarding the timing of puberty in girls (Study B). In study A, of the 305 girls, 42.9% were overweight/obese, 68.5% either had normal pubertal development for age or were prepubertal, 1 had non-classic congenital adrenal hyperplasia, and 2 had central precocious puberty. Of the 36 boys, 56% were overweight/obese, 64% either had normal pubertal development for age or were prepubertal, and 1 had non-classic congenital adrenal hyperplasia. In study B, 95% of the participants thought the girls have been developing earlier, over 10% considered the first sign of puberty to be normal after the age 14 years and 12.4% considered menarche to be normal after age 14 years. The common sources of anxiety for the participants regarding the earlier timing of puberty were psychosocial issues and short final height. In conclusion, many parents had wrong beliefs/information about the normal timing of puberty and were concerned about precocious puberty in girls. Education of parents about the normal timing of puberty may help avoiding unnecessary referrals, parental anxiety, and financial burden to the society.

Patient Characteristics and Evolution of Surgical Management of Gastric/ Gastro-esophageal Junction (GOJ) Adenocarcinoma From 1998 to 2018: Experience From a Single Gastrointestinal Surgical Unit in a Resource Limited Setting

2021 ◽  
Author(s):  
Duminda Subasinghe ◽  
TG Amal Priyantha
Keyword(s):  
Curative Resection ◽  
Distal Gastrectomy ◽  
Care Center ◽  
Tertiary Care ◽  
Patient Characteristics ◽  
Sri Lankan ◽  
Curative Therapy ◽  
High Risk Factors ◽  
Resource Limited ◽  
Low Incidence

Abstract Introduction: Gastric/gastro-oesopageal junctional adenocarcinoma/ (GC/GOJ CA) is the fourth commonly diagnosed cancer and the second commonest cancer related cause of death worldwide. Curative therapy for GC involves surgical resection with an accompanying lymphadenectomy. Yet, most of the GC/GOJ tumours are inoperable at presentation and has a poor prognosis in our setup probably due to the absence of screening programme. The objective of this study was to describe the operability and curative resection rate and outcomes of gastric/GOJ adenocarcinoma in Sri Lankan setting from 1998 to 2018.Methodology- In a retrospective analysis of prospectively maintained data from, surgery for GCs in a tertiary care center over a period of 21 years. All patients underwent surgery for GC/GOJ adenocarcinoma by single gastrointestinal surgeon. Results: There were 153 patients with mean age of 57.4(22 to 84) years. The majority (n=109) were Males (Male: Female was 2.3 : 1) . There were 88(56.4%) distal, 60(39.2%) proximal and 5(3.2%) diffuse cancers. Only 82 (53.6 %) patients underwent curative resection. Only 3 patients underwent palliative major resection (total gastrectomy(n=1), distal gastrectomy(n=2) Among curative resections,51(62.2%) had distal gastrectomy and 17(20.7%) had total gastrectomy.R0 resection was performed in 75 (91.5%), and 6 (7.3%) had microscopic positive margins (R1). Resectability of the proximal GCs (48.3%, n=29) was lower (63.4%, n=54) than the distal GCs (p= 0.117). Further, resectability among patients with GCs has not increased significantly over the past 21 years.Conclusions: Majority of the patients especially with proximal GC are inoperable at presentation. Despite the availability of endoscopes the operability has not changed significantly over the years. Given the low incidence, screening for GC is not seemingly feasible in Sri Lanka. Therefore an attempt has to be made to identify those with high risk factors during diagnostic endoscopic procedures.

scholarly journals Outcomes Associated With Fibrin Sealant Use in Lateral Neck Dissections

OTO Open ◽  
2020 ◽  
Vol 4 (4) ◽  
pp. 2473974X2098102
Author(s):  
Luke Stanisce ◽  
Michael Lai ◽  
Nadir Ahmad ◽  
Thomas C. Spalla ◽  
Lisa M. Reid ◽  
...  
Keyword(s):  
Fibrin Sealant ◽  
Intraoperative Complications ◽  
Care Center ◽  
Tertiary Care ◽  
Secondary Analysis ◽  
Lateral Neck ◽  
Tissue Adhesives ◽  
Chyle Leak ◽  
Surgical Data

Objective To determine whether the use of fibrin sealant tissue adhesives during lateral neck dissections is associated with a change in postoperative outcomes. Study Design Retrospective cohort. Setting Institutionally affiliated tertiary care center. Methods Various demographic, disease, and surgical data were collected for patients who underwent lateral neck dissections. Univariate regression analysis was performed with the following outcomes: total drain output and duration of drain placement, as well as incidence of postoperative infection, hematoma, seroma, chyle leak, and salivary leak. Results A total of 133 patients underwent lateral neck dissections. Fibrin sealant was used in 35% of cases (n = 46). Its use was not associated with differences in total drain output ( P = .77) or the number of days that the drains were in place ( P = .83). On secondary analysis, the use of fibrin sealant was not associated with a difference in postoperative incidence of hematoma ( P = .65), seroma ( P = .68), chyle leak ( P = .42), or salivary leak ( P = .73). These results were consistent when stratified by the presence of intraoperative complications. Its use accompanied an average cost of $674 per case. Conclusions Fibrin sealant use during lateral neck dissections was not associated with a reduction in drain output or days that the drains remained in situ. Although the current study was limited by sample size, fibrin sealant use was not associated with a decreased risk of postoperative adverse events. The evidence in this report suggests that the routine use of these products adds cost without clear benefit.

EPIDEMIOLOGY AND OUTCOMES OF ELECTRIC BURN INJURY AT TERTIARY CARE CENTER IN JODHPUR, RAJASTHAN

2019 ◽  
Vol 3 (6) ◽  
Author(s):  
Bharti Saraswat ◽  
Ashok Yadav ◽  
Krishna Kumar Maheshwari
Keyword(s):  
Burn Injury ◽  
Low Voltage ◽  
Care Center ◽  
Tertiary Care ◽  
The Body ◽  
Electrical Injury ◽  
Age Group ◽  
Electric Circuits ◽  
Medical College ◽  
Social Burden

Background- Electric burns and injuries are the result of electric current passing through the body. Temporary or permanent damage can occur to the skin, tissues, and major organs. Methods- This prospective study was carried out on patients admitted in burn unit of department of surgery M.G. Hospital associated with Dr. S.N. Medical College Jodhpur. Records of the patients admitted from January 2018 to December 2018 were studied. Bed head tickets of the patients evaluated in detail. Results- In our study out of 113 patients maximum no. of patients were in age group of 21-30 years 44 (38.94%) followed by age group <11 years in 21 (18.58%) patients and age group of > 60 years in only 3 (2.65%).39 (34.51%) patients were farmer and 15 (13.27%) were electrician in out of 113 total patients, while 37 (32.74%) were without any occupation. 65 (57.52%) cases of high voltage (HV) electrical injury and 48 (42.48%) cases were of low voltage (LV) electrical injury. Conclusion- Morbidity leading to permanent disabilities make the person physically dependent on others. It can be prevented by educating the people about the proper handling to electric circuits & devices. Proper communication among the electricians may help in lowering such accidents. Proper rehabilitation of the handicapped person & employment to the member of the affected family may reduce the social burden caused by such electricity concerned accidents.

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