Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review.
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ABSTRACT:
SUBMITTER: Xue R
PROVIDER: S-EPMC8498102 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundA family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generalized dysplasia in bone, prolonged retention of primary teeth and delayed eruption of permanent teeth were evident. Interestingly, there were no supernumerary teeth present. There was mandibular prognathism which was intercepted by occipital chin cup therapy.Aims and objectiveTo present the clinical manifestations, diagnostic imaging and treatment modalities along with dermatoglyphics in CCD patients.ConclusionCleidocranial dysplasia is an uncommon disorder however its clinical and radiological features are characteristic. In addition the CCD patients may be distinguished by specific dermatoglyphic markers. It carries with it several implications in terms of complications like skeletal malocclusion, dental caries, etc. Medical treatment is mainly directed at orthopedic and dental correction. A team approach to the management of dental abnormalities on a long-term basis with the overall goal to provide an esthetic facial appearance and functioning occlusion by late adolescence or early adulthood should be focused.
| S-EPMC4086567 | biostudies-literature
Project description:BACKGROUND:Cleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones. The prevalence of CCD is one in a million of live births, and epileptic seizures are rarer in this disease. CASE PRESENTATION:Herein, we present a case of a 10-year-old girl, who not only suffered with cleidocranial dysplasia, but experienced frequent seizures. We initiated an anti-epileptic treatment for this patient with dose adjustments to her weight of levetiracetam (10?mg/kg, bid) for 3?months. The epileptic seizures were controlled, but the intelligence level and control of epilepsy need to be followed up for a longer duration. CONCLUSIONS:In clinical practice, if a patient has unusual facies, typical clavicle defect, skull bone enlargement, and unclosed anterior fontanelle, we should consider the possibility of cleidocranial dysplasia, genetic detection are helpful to make a confirmed diagnosis. In such cases, early diagnosis and treatment is important to correct deformities and improve the quality of life of patients.
| S-EPMC6452517 | biostudies-literature
Project description:BACKGROUND:Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features. The responsible gene for CCD is RUNX2 located on the short arm of chromosome 6p21. In general, there are intrafamilial variations in height among CCD patients. Few studies have reported data on recombinant human growth hormone (rhGH) treatment for patients with CCD; thus, it remains to be elucidated whether rhGH treatment can improve short stature. Here, we report a case of a 6-year-old girl with CCD who has growth hormone deficiency (GHD) and a novel mutation of RUNX2. CASE PRESENTATION:At 5?years of age, this patient was diagnosed with GHD and rhGH treatment was initiated. Thereafter, she was diagnosed with CCD due to the presence of hypoplastic clavicles and an open fontanelle, which was also observed in her mother and brother. She responded well to rhGH treatment; her height improved from -?3.2 SD to -?2.4 SD after 13?months. CONCLUSION:A detailed patient history and physical examination are necessary for the early diagnosis of CCD. Similarly, to ascertain the effect of rhGH treatment, careful evaluation of the patient's final height post-therapy is needed.
| S-EPMC6966812 | biostudies-literature
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Graves disease or other causes of thyrotoxicosis are frequently associated with cytopenia. Although anemia is the most common, other cell lineage can be affected. Pancytopenia is a rare complication of thyrotoxicosis.We report a case of a 33-year-old Chinese man who presented a nonsevere pancytopenia in the context of a newly diagnosed Graves disease. Restauration of euthyroid state led to progressive correction of pancytopenia.Literature review shows other rare cases of pancytopenia. It is usually nonsevere with just extremely rare cases of transfusion reported. Evolution was always favorable after achievement of euthyroid state. Its mechanism remains poorly understood, especially because those patients have no vitamin or iron deficiency. The exact physiopathological process remains unclear but 2 causes seem to overlap: reduced production of hematopoietic cells from the bone marrow and increased destruction or sequestration of mature hematopoietic cells. Despite unclear mechanism, the presence of hematologic abnormalities including pancytopenia must not be considered as a contraindication to antithyroid drug therapy.
| S-EPMC6069025 | biostudies-other
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:ObjectiveThis study was designed to investigate the predictors of bronchopulmonary dysplasia in neonates with respiratory distress syndrome.MethodsThis was a single-center retrospective cohort study conducted between 1 January 2015 and 31 December 2020. A total of 625 neonates with respiratory distress syndrome (RDS) were enrolled. Demographic data, clinical presentations, complications and related treatment information were collected and analyzed. We used bivariate and multivariate logistic-regression analyses to determine significant predictors of bronchopulmonary dysplasia (BPD) in RDS neonates.ResultsIn these 625 neonates, 102 (16.3%) of them developed BPD. Bivariate analysis and multivariate logistic-regression analyses revealed that birthweight, gestational age under 32 weeks, duration of oxygen therapy over 10 days, asphyxia, patent ductus arteriosus, transfusion of red blood cells (packed red blood cells) and surfactant use were significantly associated with the development of BPD.ConclusionBirthweight, gestational age <32 weeks, total duration of oxygen therapy >10 days, asphyxia, patent ductus arteriosus, need for red blood cell infusion, and the use of pulmonary surfactant were important predictors of BPD in neonates with RDS.
| S-EPMC9122647 | biostudies-literature
Project description:Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with facial, dental, and skeletal impairments. Affected individuals have varying degrees of skull, shoulder, dental, spine, and facial impairments. Early diagnosis and timely intervention help in minimization of complications, planning of pregnancy, and better quality of life.
| S-EPMC9547988 | biostudies-literature
Project description:Background:Clinicians must maintain an index of suspicion to diagnose an anorectal foreign body (FB). The patient may not be forthcoming with information secondary to embarrassment or possibly psychiatric issues. Providers must express empathy and compassion while maintaining nonjudgmental composure. Despite accounts of anal FB insertion, this pathology is lacking level one evidence-based surgical algorithms. Case presentation:A 46-year-old male psychiatric patient presented in septic shock, complaining of lower abdominal/pelvic pain starting 1 week prior. His past medical history was significant for schizophrenia, bipolar disorder, and noncompliance with medications. CT of the abdomen/pelvis revealed a rectal perforation with free air and a FB which appeared to be a screwdriver. Fluid resuscitation and broad-spectrum antibiotics were administered. In the operating room, after unsuccessful transrectal removal, an exploratory laparotomy was performed. The metallic end of the screwdriver had perforated the rectosigmoid. Resection of the perforated rectum with removal of the screwdriver, incision and drainage of a large right buttock abscess and colostomy was performed. The patient recovered and was discharged to behavioral health. At 2 weeks follow-up the patient was doing well with a functioning colostomy and reversal was planned for later this year. Conclusion:This case highlights the importance of maintaining a high index of suspicion when encountering psychiatric patients with nonspecific lower abdominal or anorectal pain with inconsistent presentations. Controversy exists regarding the type of surgical treatment in case of anorectal perforation. More research is needed to provide surgeons with evidence-based standardized methods for dealing with these rare pathologies.
| S-EPMC6804320 | biostudies-literature
Project description:We report the case of a 58-year-old female presenting with central airway obstruction leading to airway compromise thrice, first two times from endobronchial growth of typical carcinoid tissue and subsequently from granulation tissue at anastomotic site after left carinal pneumonectomy. Bronchoscopic resection of carcinoid tumor and granulation tissue was performed successfully with electrosurgical snaring through rigid bronchoscope. Cryodebridement using flexible cryoprobe of the tumor was done postembolization and of the remnant granulation tissue without any complication. A multimodality approach is required for favorable outcome as observed in this case.
| S-EPMC6120316 | biostudies-literature