Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.
Ontology highlight
ABSTRACT:
SUBMITTER: Guo L
PROVIDER: S-EPMC2948914 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Publications
Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.
Guo Li L Li Bing-Xiao BX Deng Mei M Wen Fang F Jiang Jian-Hui JH Tan Yue-Qiu YQ Song Yuan-Zong YZ Liu Zhen-Huan ZH Zhang Chun-Hua CH Kobayashi Keiko K Wang Zi-Neng ZN
Journal of biomedicine & biotechnology 20100926
Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases) including inborn errors of metabolism (IEM) and congenital dysmorphic diseases, constituted the commonest etiology ...[more]
Similar Datasets
Project description:BackgroundNephron sparing surgery (NSS) had become the main surgical treatment for bilateral nephroblastoma. But it remained a challenge for surgeons to balance the dilemma between complete tumor resection to reduce tumor recurrence and renal parenchyma preservation to reduce end-stage renal disease (ESRD). In this study, we summarized our clinical experience for bilateral Wilms tumors managed in our center and evaluated the influence of different surgical approaches on prognosis.MethodsThe clinical data of patients with bilateral Wilms tumor in our hospital from January 2010 to December 2020 were retrospectively analyzed, and the clinical symptoms, surgical approaches and prognosis of the disease were summarized.ResultsWe reviewed medical records of 16 patients, including 13 (81.3%) girls and 3 (18.7%) boys. The mean age of the patients was 17.88±11.65 months (range, 6-42 months). Five patients presented with hypertension and two presented with hemihypertrophy. Fifteen cases had synchronous tumors, while only one patient had metachronous bilateral lesions. Thirteen patients received neoadjuvant chemotherapy and only 8 kidneys (30.8%) responded to chemotherapy. Two patients gave up surgery, and the other fourteen patients underwent radical resection, of which 2 patients only underwent unilateral radical nephrectomy (RN); 7 and 5 patients underwent single-stage and two-stage operation for bilateral lesions, respectively. In all surgical patients, RN was performed on 5 kidneys, and NSS was performed on 21 kidneys. The positive margins after NSS were found in 6 kidneys (35.3%). After a median follow-up period of 26.3 months, local tumor recurrence and renal insufficiency occurred in two and one patients. The 5-year overall and event-free survival rates were 78.1% and 58.6%, respectively. In univariable analysis, the survival rate in the initial chemotherapy group (92.3%) was significantly higher than that in the initial surgery group (33.3%) (P=0.048), whereas positive margin and staged operation (P>0.05) appeared not significantly associated with overall survival.ConclusionsThe proportion of tumor reduction after preoperative chemotherapy is relatively low for bilateral Wilms tumor, but preoperative chemotherapy could improve overall survival. NSS is recommended for bilateral Wilms tumor, and the customized procedure can be selected according to the location and anatomical features of tumor.
| S-EPMC10928630 | biostudies-literature
Project description:Background and aimChildren who suffer cardiopulmonary arrest (CPA) after cardiac surgery frequently survive with return of spontaneous circulation. However, their neurodevelopmental outcomes and performance are still unclear. The aim of this study is to evaluate the midterm neurodevelopmental outcome and overall performance of children who survived CPA following cardiac surgery.Materials and methodsIn this cohort study, we followed-up children who received cardiopulmonary resuscitation (CPR) post cardiac surgery during 2012-2013. We assessed their 5-year survival, functional, and neurodevelopmental outcomes using two performance scales: Pediatric Cerebral Performance Category (PCPC) and Pediatric Overall Performance Category (POPC). Both scales ranged from 1 for normal to 6 for brain death/death. We compared CPR group with a matching group (1:1) that had similar characteristics and conditions but no CPR.ResultsOut of 758 postoperative cardiac children, 15 (2%) children had 19 episodes of CPA. Their median age was 10 months (0.5-168). Survival rates were 12/15 (80%) on hospital discharge and 10/15 (66%) after 5 years. Among 12 survivors, two patients (17%) scored 6, one (8%) scored 4, five (42%) scored 2, and four (33%) scored 1 on both PCPC and POPC. The median PCPC and POPC scores were [2, (interquartile range: 1-6) and 1, (interquartile range: 1-3, p = 0.018] for CPR and matching group, respectively. Regression analysis identifies duration of CPR, number of CPR session, and late-occurring CPA as risk factors for poor outcome.ConclusionTwo-thirds of children requiring CPR post cardiac surgery survived after 5 years. Their neurodevelopmental and functional evaluation demonstrated worse outcome in comparison with their matching cases. CPR duration, number of CPA events, and late CPA were risk factors for poor outcome. Rehabilitation and special education programs might be needed for these groups of children with special needs.
| S-EPMC6598872 | biostudies-literature
Project description:ObjectivePrimary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified.MethodsPatients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail.ResultsSeventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient.ConclusionEtiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/ without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.
| S-EPMC7947721 | biostudies-literature
Project description:AimsThe incidence of type 2 diabetes in China has exhibited an increasing trend, including younger individuals, over the past years. Early-onset type 2 diabetes (EOT2D) refers to diabetes diagnosed before 40 years of age. These patients have poor metabolic control and are highly susceptible to diabetic complications, which poses challenges for treatment. However, few studies have reported on the treatment of EOT2D. We determined clinical features and trends in drug use in patients with type 2 diabetes mellitus (T2DM).Materials and methodsThis retrospective study was performed at the Endocrinology Ward, Peking Union Medical College Hospital (PUMCH). "Diabetes" was used when searching PUMCH's Electronic Medical Record Analytical Database to obtain clinical data of patients between January 2013 and May 2022.ResultsThe analysis included 1590 patients with T2DM. Among them, 609 (38.3%) had EOT2D. Compared with late-onset type 2 diabetes (LOT2D) patients, EOT2D patients exhibited worse glycemic control and higher body weight and lipid levels despite significant age differences. EOT2D patients also had a higher risk of diabetic retinopathy and nephropathy. Under the general trend of increasing use of dipeptidylpeptidase-4 inhibitors, sodium-glucose cotransporter-2 inhibitors, and glucagon-like peptide-1 agonists, patients with EOT2D were more likely to use organ-protective drugs.ConclusionsCompared with LOT2D patients, EOT2D patients have a longer course of diabetes, worse metabolic control, and a higher rate of developing microvascular complications. The administration of combined therapy, including new agents, may require consideration when selecting hypoglycemic agents for treating EOT2D.
| S-EPMC10809291 | biostudies-literature
Project description:BackgroundTo perform a retrospective analysis of 47 cases of pediatric heart transplantation in a single Chinese center.MethodsThe study included 47 cases of heart transplantation under 18 years old, completed between Sep 1st, 2008 and Dec 31st, 2018. We carried out statistical analysis of the clinical features of the donors and recipients, perioperative information, postoperative complications and short- and mid-term survival.ResultsThe study included 24 males and 23 females. The average age on transplantation was 10.34±4.80 years (minimum 3 months, median 11.00 years). Preoperative diagnosis included 36 cases of cardiomyopathy, 9 cases of complex congenital heart disease (CHD), and 2 cases of cardiac tumor. Four patients received cardiac surgery before. The donors' average age was 20.89±11.84 years, including 19 donors under 18 years old and 28 donors over 18 years old. The mean donor/recipient body weight ratio was 1.58±0.58. The mean duration of intraoperative cardiopulmonary bypass (CPB) was 119.00±53.47 minutes, in which the mean CPB-assist time was 79.71±48.21 minutes. The average duration of postoperative mechanical ventilation was 32.00 (18.50-54.00) hours, and the average intensive care unit (ICU) stay was 7.00 (4.94-11.28) days. Postoperative complications occurred in 20 cases (42.55%). The 1-year, 3-year, and 5-year survival rate after operation was 95.74%, 93.01%, and 93.01% respectively.ConclusionsHeart transplantation is an effective means for end-stage heart disease in children. The clinical outcome of pediatric heart transplantation in our center is satisfactory, with low incidence of postoperative complications and high short- and mid-term survival rates.
| S-EPMC7210190 | biostudies-literature
Project description:We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The common missense mutation Q456H was found in 80% of patients with profound biotinidase deficiency. Of them, one patient harbored the novel mutation M399I in compound heterozygosity (M399I/Q456H). The complex allele A171T/D444H in cis was found in two patients with profound biotinidase deficiency (in homozygosity and in compound heterozygosity with the R211H mutation, respectively) and in one patient with partial biotinidase deficiency (in compound heterozygosity with the protective allele D444H in trans). All detected patients were treated and followed up at our Center until present. Biotin therapy (10-20 mg/day) allowed the full prevention of clinical symptoms in all patients with no adverse effects. These excellent outcomes confirm that newborn screening for biotinidase deficiency is a very effective secondary prevention program.
| S-EPMC5608602 | biostudies-literature
Project description:Collapsing glomerulopathy (CGP) is a pattern of kidney injury seen on renal biopsy with multiple associations and etiologies. It is most commonly described in African-Americans and others with recent African ancestry. The disease is rapidly progressive and often presents with abrupt onset of renal failure and nephrotic-range proteinuria. Since its description 30 years ago, this entity has transformed from a morphologic diagnosis typically seen in the setting of HIV infection to a complicated diagnosis with numerous etiologies, many of which are associated with underlying apolipoprotein L1 (APOL1)-risk variants or other genetic disorders. We review the evolution of CGP, and its history and proposed pathomechanisms. We also present the disease spectrum from our experience with emphasis on recognizing the lesion, distinguishing from mimics and linking the histopathological pattern to a specific cause. Our understanding continues to evolve as clinicians and scientists work toward a more complete understanding of the molecular pathways of injury in this disease and how these might be disrupted for therapeutic purposes. Much still remains to be discovered in CGP as the molecular underpinnings leading to disease are still not completely understood and no effective treatment exists despite the high morbidity. Based on this rapid evolution, CGP is a modern template of how we diagnose and think about kidney disease. The story of CGP represents the current shift in nephrology and nephropathology from morphology-alone-based diagnosis to a comprehensive approach including molecular diagnostics. We believe this new, holistic approach will lead to pathogenesis-centered diagnoses that will help to individualize risk stratification and treatment protocols.
| S-EPMC5570123 | biostudies-literature
Project description:Amyloidosis of the gastrointestinal tract, with biopsy-proven disease, is rare. We reviewed a series of patients who presented with biopsy-proven gastrointestinal amyloidosis and report their clinical characteristics, treatments, and survival. This is a retrospective review of data prospectively collected from January 1998 to December 2011 in a tertiary referral center; 2,334 patients with all types of amyloidosis were evaluated during this period. Seventy-six patients (3.2%) had biopsy-proven amyloid involvement of the gastrointestinal tract. Their median age was 61 years (range, 34-79). Systemic amyloidosis with dominant gastrointestinal involvement was present in 60 (79%) patients, whereas the other 16 (21%) patients had amyloidosis localized to the gastrointestinal tract without evidence of an associated plasma cell dyscrasia or other organ involvement. Of the 60 systemic cases, 50 (83%) had immunoglobulin light-chain, five (8%) had familial lysozyme, three (5%) had wild-type transthyretin, and two (3%) had mutant transthyretin amyloidosis. The most frequent symptoms for all patients were weight loss in 33 (45%) and gastrointestinal bleeding in 27 (36%). Incidental identification of amyloidosis on routine endoscopic surveillance played a role in the diagnosis of seven patients with systemic immunoglobulin light-chain, and four patients with immunoglobulin light-chain localized to the gastrointestinal tract. Amyloid protein subtyping was performed in 12 of the cases of localized disease, and all had lambda light chain disease. Of the 50 patients with systemic immunoglobulin light-chain amyloidosis, 45 were treated with anti-plasma cell therapy. The median survival has not been reached for this group. For the 16 patients with localized gastrointestinal amyloidosis, supportive care was the mainstay of treatment; none received anti-plasma cell therapy. All 16 are alive at a median follow-up of 36 months (range, 1-143). Patients with biopsy-proven gastrointestinal amyloidosis often present with weight loss and bleeding. In localized cases, all that underwent typing were due to lambda light chain amyloidosis and none progressed to systemic disease during the period of follow-up. Most patients with systemic disease had immunoglobulin light-chain, and their tolerance of therapy and median survival were excellent. Although a rare manifestation of amyloidosis, staining for amyloid should be considered in patients undergoing gastrointestinal biopsy who have unexplained chronic gastrointestinal symptoms.
| S-EPMC3533676 | biostudies-literature
Project description:BackgroundHepatic hemangiomas are the most typical benign mesenchymal lesions of the liver. Most of these lesions are asymptomatic. Giant hepatic hemangiomas (GHH) (>10 cm) are often symptomatic and require surgical intervention. This study aimed to describe the clinical findings, risk factors, diagnostic approach and management of GHH.MethodsWe performed a retrospective analysis of patients with GHH treated at our hospital from January 2008 to December 2018. The medical records of each patient were reviewed to obtain the clinical and surgical data.ResultsTwelve patients with GHH were treated during the study period. 9 were female and 3 were male. The mean age of diagnosis was 48,2 years. The most common presenting symptom was abdominal pain. Eight patients presented an abdominal mass. Indications for surgical resections were rupture (n = 2), Kasabach-Merritt syndrome (n = 1) and abdominal pain (n = 9). Right hepatectomy was done in four patients, left lobectomy in four patients, and enucleation in four patients. Embolization was performed in 4 patients, but due to the persistence of symptoms or bleeding, surgery was indicated. The mean operative time was 3.5 h, and median blood loss was 870 ml. The median hospital stay was 5.3 days. For four patients, we registered postoperative complications causing death in one case. All alive patients were asymptomatic at a median follow-up of 55 months.ConclusionDespite limitations and alternative modalities, surgery remains the only effective curative treatment for GHH.
| S-EPMC8379432 | biostudies-literature
Project description:BackgroundPatients with a rectal foreign body (RFB) are still a rare entity in general surgery departments but with an increasing incidence over the last years. This case is sometimes difficult to treat, and due to a lack of standardized treatment options, the aim of the study was to present our clinical experiences with the diagnostic and therapeutic approach to RFBs and a review of the currently available literature.Materials and methodsData were collected retrospectively from the patient's records of 20 patients who were treated due to an RFB between 2006 and 2016. Patient's demographics, circumstances of insertion, inserted objects, clinical presentation, laboratory and imaging results, as well as surgical treatment and duration of hospital stay were analyzed. Additionally, a review of the literature was performed with the search items "rectal foreign body" and "surgical therapy". Because many publications were just case reports, we did not perform a meta-analysis or a systematic review.ResultsTwenty-two cases in 20 patients (80% male) presented to the emergency room. The mean age was 38.5±13.7 years. In 68.2% of the cases, the cause of RFB was due to sexual preferences. The following objects were inserted: six dildos, three vibrators, two bottles, one glass, one deodorant, one apple, one fever thermometer, multiple glass fragments and razor blades in one patient and six unknown objects. For 18 RFBs, manual peranal removal without anesthesia was possible in the emergency room, but two patients required intravenous analgesia. Two patients were transferred to the operating room and the foreign body was removed via the anus under general anesthesia. Open surgery with a laparotomy was necessary for two complicated cases. One patient was in need of surgery due to a vacuum generated by the RFB, whereas the second patient suffered from a sigmoid perforation. In all cases, there was no morbidity or mortality.ConclusionIn most cases, the removal of an RFB can be performed peranally in the emergency room without further complications, therefore representing the therapy of choice for RFB. Only in cases with perforation, acute abdomen, or failed peranal approaches, surgery is indicated to remove the foreign body.
| S-EPMC6754005 | biostudies-literature