A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome.
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ABSTRACT:
SUBMITTER: Bejiqi R
PROVIDER: S-EPMC5511525 | biostudies-other | 2017 Apr
REPOSITORIES: biostudies-other
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Project description:Objective The aim of the study was to report our experience with placed allogenic acellular bone matrix and mandibular distraction osteogenesis in Pierre Robin sequence (PRS), and explore the role of distraction in the osteogenesis of acellular bone. Materials and Methods A total of 428 neonates with severe PRS managed with placing allogenic acellular bone and bilateral mandibular distraction osteogenesis were included in the study. The procedure included using oblique-shaped osteotomy, fixing bilateral mandibular distractor, instantly extending a 4–6 mm gap, and placing allogenic acellular bone into the gap. The length of allogenic acellular bone was 4–5 mm. Although the surgical techniques, distraction, and consolidation periods were similar, the allogenic acellular bone matrix we placed was quite different from the traditional distraction. With the technology we used, tracheal intubation could be immediately removed, thus quickly improving breathing conditions compared to traditional methods after the surgery. The jaw extending and oral feeding could begin on the 5th day. The jaw was extended 0.6 mm twice a day until the mandible was overcorrected by 20%. Results All 428 cases included in this study were successfully extubated after the operation, and the difficulty in breathing was instantly relieved. Total mandibular distraction was 15–20 mm. Oral feeding was started at 6 h to 6 days postoperatively, while hospital stay ranged from 18 to 20 days postoperatively. No major complications were reported. Medium to long-term results was good. Mandibular distractors were removed after 3 months. Conclusions Bilateral mandibular distraction osteogenesis combined with placing allogenic acellular bone in the neonate are safe and accurate procedures, which are the primary treatment options for cases of severe PRS. It can be considered that the tension of distraction can promote osteogenesis in acellular bone and thus improve distractive effect of the mandible.
| S-EPMC9168749 | biostudies-literature
Project description:Animals use vocalizations to exchange information about external events, their own physical or motivational state, or about individuality and social affiliation. Infant babbling can enhance the development of the full adult vocal repertoire by providing ample opportunity for practice. Giant otters are very social and frequently vocalizing animals. They live in highly cohesive groups, generally including a reproductive pair and their offspring born in different years. This basic social structure may vary in the degree of relatedness of the group members. Individuals engage in shared group activities and different social roles and thus, the social organization of giant otters provides a basis for complex and long-term individual relationships. We recorded and analysed the vocalizations of adult and neonate giant otters from wild and captive groups. We classified the adult vocalizations according to their acoustic structure, and described their main behavioural context. Additionally, we present the first description of vocalizations uttered in babbling bouts of new born giant otters. We expected to find 1) a sophisticated vocal repertoire that would reflect the species' complex social organisation, 2) that giant otter vocalizations have a clear relationship between signal structure and function, and 3) that the vocal repertoire of new born giant otters would comprise age-specific vocalizations as well as precursors of the adult repertoire. We found a vocal repertoire with 22 distinct vocalization types produced by adults and 11 vocalization types within the babbling bouts of the neonates. A comparison within the otter subfamily suggests a relation between vocal and social complexity, with the giant otters being the socially and vocally most complex species.
| S-EPMC4229255 | biostudies-literature
Project description:We provide an overview of imaging, histopathology, genetics, and multidisciplinary treatment of giant cell tumor of bone (GCTB), an intermediate, locally aggressive but rarely metastasizing tumor. Overexpression of receptor activator of nuclear factor κB ligand (RANKL) by mononuclear neoplastic stromal cells promotes recruitment of numerous reactive multinucleated giant cells. Conventional radiographs show a typical eccentric lytic lesion, mostly located in the meta-epiphyseal area of long bones. GCTB may also arise in the axial skeleton and very occasionally in the small bones of hands and feet. Magnetic resonance imaging is necessary to evaluate the extent of GCTB within bone and surrounding soft tissues to plan a surgical approach. Curettage with local adjuvants is the preferred treatment. Recurrence rates after curettage with phenol and polymethylmethacrylate (PMMA; 8%-27%) or cryosurgery and PMMA (0%-20%) are comparable. Resection is indicated when joint salvage is not feasible (e.g., intra-articular fracture with soft tissue component). Denosumab (RANKL inhibitor) blocks and bisphosphonates inhibit GCTB-derived osteoclast resorption. With bisphosphonates, stabilization of local and metastatic disease has been reported, although level of evidence was low. Denosumab has been studied to a larger extent and seems to be effective in facilitating intralesional surgery after therapy. Denosumab was recently registered for unresectable disease. Moderate-dose radiotherapy (40-55 Gy) is restricted to rare cases in which surgery would lead to unacceptable morbidity and RANKL inhibitors are contraindicated or unavailable.
| S-EPMC4012970 | biostudies-literature
Project description:The pathologic involvement of brainstem and midbrain nuclei and white matter tracts in various combinations may result in a spectrum of arithmetically derived syndromes. They include 'one and a half syndrome', 'eight and a half syndrome' and 'fifteen and a half syndrome'. We report a case of 'nine syndrome', which has been reported more recently, caused by caused by acute pontine infarcts and characterised clinically by a combination of internuclear ophthalmolplegia, ipsilateral horizontal gaze palsy, lower motor neuron type of facial palsy, contralateral hemiparesis and hemianesthesia. We highlight the genesis of this combination of clinical signs, revisit the different variants of INO and review the literature on 'Nine syndrome'.
| S-EPMC6238551 | biostudies-literature
Project description:Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.
| S-EPMC8114067 | biostudies-literature
Project description:A rare case of neonatal congenital coronary artery, right ventricle fistula with giant coronary artery aneurysm formation, was reported. Computed tomography angiography demonstrated the dilated and tortuous tunnel arising from the right aortic sinus and traversing the epicardial surface before opening into the anterolateral aspect of the RV. Successful surgical repair was performed with a patch closure of the fistula and coronary angioplasty. The postoperative recovery was uneventful. Our experience of this rare congenital heart disease demonstrated that early surgical repair of coronary artery fistula and coronary angioplasty in the neonate can be performed safely. Further study is needed to seek the basis on this.
| S-EPMC8241900 | biostudies-literature
Project description:ObjectiveIt has been suggested that adverse early life exposures increase the risk of developing polycystic ovary syndrome (PCOS) in later life. We hypothesized that women born preterm would have more biochemical and clinical signs of PCOS than women born at term.DesignThe ESTER Preterm Birth Study participants were born in Northern Finland and identified from the Northern Finland Birth Cohort and the Finnish Medical Birth Register. Altogether, 74 women born very or moderately preterm (<34 gestational weeks, VMPT), 127 born late preterm (at 34-36 weeks, LPT), and 184 born full term (≥37 weeks, controls) were included in the analysis (mean age: 23.2 years).MethodsWe measured serum total testosterone and sex hormone-binding globulin (SHBG) and calculated the free androgen index (FAI). PCOS according to the clinical and biochemical signs was defined either as hirsutism and oligoamenorrhea (via questionnaire) or as oligoamenorrhea and elevated testosterone levels (>2.4 nmol/L).ResultsWomen born VMPT/LPT exhibited 33.0% (8.7, 62.8)/16.4% (-2.0, 38.1) higher testosterone, 28.5% (5.3, 45.9)/24.1% (5.6, 38.9) lower SHBG levels, and 64.6% (19.4, 127.1)/42.5% (11.1, 82.9) higher FAI than controls after adjusting for age and recruitment cohort, maternal BMI, smoking, and pregnancy disorders, parental education, history of hypertension, diabetes, myocardial infarction or stroke, and subject's birth weight s.d. Odds ratios for having PCOS were 1.67 (0.44, 6.23)/3.11 (1.26, 7.70).ConclusionsWomen born preterm have a more hyperandrogenic hormonal profile, and those born LPT are approximately three times more likely at risk to have PCOS compared to women born at term.
| S-EPMC8284903 | biostudies-literature
Project description:Herein, we present a case of ischemic heart failure that occurred immediately after birth in a neonate due to coronary artery fistula (CAF) from the left main coronary artery to the left atrial appendage associated with high pulmonary artery pressure. Ischemic heart failure in a neonate with a structurally normal heart is rare. Furthermore, CAF resulting in ischemic heart failure is very rare in neonates. We believe that the small CAF caused symptoms during the first few days of life due to moderate pulmonary hypertension which resulted in a low cardiac output. The coronary perfusion improved after the normalization of the pulmonary blood pressure and improvement of the cardiac output. Echocardiography is helpful when a CAF is suspected and can be confirmed using a cardiac computed tomography scan. Small CAFs are unlikely to cause symptoms in infants, provided there are no other factors affecting the cardiac output status.
| S-EPMC9802627 | biostudies-literature
Project description:Ovarian tumors can get extremely giant to occupy the whole abdominal cavity. We report a case of 36 kg solid ovarian tumor, which was the largest ovarian solid tumor that have been ever reported. A 54-year-old woman presented to our hospital with a chief complaint of markedly distended abdominal wall. Preoperative imaging examinations revealed that most of the tumor was uniform and its density was like that of subcutaneous fat. Pleural effusion was detected in the right thoracic region. We organized a multidisciplinary team and successfully resected the right adnexa. The patient had an uneventful postoperative course, and she was discharged on the 7th postoperative day and diagnosed with a fibroma of the ovary with Meigs syndrome. A comprehensive literature search revealed 48 cases of extremely giant ovarian tumor in these 20 years. Six out of 48 cases are solid. Twelve out of 48 cases are malignant or borderline malignant, and patients' age and tumor size/weight were not related to the frequency of malignancy/borderline malignancy. As many as 4 out of 48 patients died before their first hospital visit or early after surgery. Clinicians should consider a considerable high mortality and frequency of severe surgical complications when planning the treatment strategy for extremely giant ovarian tumors.
| S-EPMC8382553 | biostudies-literature
Project description:BackgroundHypoplastic right heart syndrome with pulmonary atresia is a rare cyanotic heart disease with poor prognosis requiring urgent intervention to establish the pulmonary blood flow. Pulmonary blood flow is achieved by BT shunt or percutaneous techniques like PDA stenting or pulmonary valve perforation. Various series have shown that early surgical intervention causes high mortality in these patients. Pulmonary valve perforation is a suitable, physiological alternative to surgical techniques in selected patients.Case presentationWe report a case of hypoplastic right heart syndrome with pulmonary atresia and restrictive VSD presenting with cyanosis from birth and underwent pulmonary valve perforation successfully.ConclusionDuct-dependent pulmonary circulation is a pediatric emergency, palliative procedure for establishing adequate pulmonary blood flow is essential early in the life. In the management of duct-dependent pulmonary circulation, RVOT perforation is an effective and safe option in suitable high-risk subgroups. The induced pulmonary regurgitation along with established physiological antegrade flow would be beneficial in the remodeling of tripartite/hypertrophied small RV.
| S-EPMC7524925 | biostudies-literature