Calcaneal nonunion: three cases and a review of the literature.
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ABSTRACT:
SUBMITTER: Schepers T
PROVIDER: S-EPMC2413128 | biostudies-other | 2008 Jul
REPOSITORIES: biostudies-other
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Project description:Background:Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk. Objectives:In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins. Methods:We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH). Results:Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal. Conclusion:Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.
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Project description:Gangliogliomas are rare tumors of the central nervous system that are thought to arise from a glioneuronal precursor and consist of both neuronal and glial elements. Grade III, or anaplastic ganglioglioma (AGG), most commonly affects children and young adults, generally arises in a supratentorial location, is highly epileptogenic, and often results in diffuse local and distant failure within the craniospinal axis. Pathologically, these tumors are graded by the degree of malignancy in their glial portion and radiologic diagnosis is difficult due to the wide variation in its degree of solid and cystic components, contrast uptake, and calcification patterns. This report presents three cases of AGG, with initial treatment including subtotal resection followed by conformal radiotherapy. In the case where the AGG developed in the setting of an existent low-grade astrocytoma, the patient received no chemotherapy. Both of the other de novo cases were managed with adjuvant chemoradiotherapy with temozolomide. Recurrence occurred at 6, 16, and 20 months following therapy. Two of the three patients experienced symptomatic decline at recurrence, but experienced Karnofsky performance status (KPS) improvement after salvage therapy, including the reduction of cranial neuropathy and balance. All patients had a significant reduction in presenting symptoms following salvage therapy. Patients died at 23, 20, and 22 months following initial surgical management, respectively. A review of anaplastic and malignant gangliogliomas is presented in the context of these three cases.
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Project description:Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1-2 Mb loss, characterized by multicystic dysplastic kidneys or other urinary system anomalies starting in utero, including autism or maturity-onset diabetes of the young in its postnatal phenotype. Here, we report on three cases (two prenatal and one postnatal) with distinct and novel clinical presentations as compared with a large number of reviewed patients, thus emphasizing the phenotypic variability of this syndrome and the consequent difficulties in genetic counselling. Prenatal hyperechogenic multicystic kidneys, as well as other urinary tract anomalies, should be considered a marker, therefore indicating the necessity of comprehensive genetic testing, and autism should also be acknowledged as a possible clinical presentation, postnatally.
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Project description:RationaleThe vast majority of acute promyelocytic leukemia (APL) is characterized with a specific chromosomal translocation t (15, 17) (q22, q21), which fuses PML-RARα leading to a good response to all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). However, there are few cases of atypical APL, including PLZF-RARα, F1P1L1-RARα, STAT5b-RARα, et al. Neither PLZF-RARα nor STAT5b-RARα are sensitive to ATRA and ATO, and the prognosis is poor.Patient concernsHere we have 3 cases (PLZF-RARα, n = 2; STAT5b-RARα, n = 1). Case A, A 53-year-old Chinese female had suffered ecchymosis in both legs for 3 days. Case B, A 44 years old male suffered pain from lower limbs and hip. Case C, 52-year-old male patient presented with fever for 3 weeks invalid to antibiotics and gingival bleeding for 1 week.DiagnosesWith RT-PCR and karyotype, Case A is diagnosed with STAT5b-RARα-positive APL.Case B, C are diagnosed with PLZF-RARα-positive APL.InterventionsIn case A, ATO, and ATRA were used for induction treatment. In Case B, ATO, and chemotherapy with DA were given in the first induction treatment. In Case C, ATRA, and ATO were used immediately, subsequently, chemotherapy was added with DA, ATRA, and CAG combination treatment, and medium-dose cytarabine with daunorubicin were given regularly.OutcomesIn Case A, the patient refused the following treatment and discharged on day 25. In Case B, the patient got the disseminated intravascular coagulation (DIC).In Case C, the patient has survived for 7 months and remains CR.LessonsBoth STAT5b-RARα-positive APL and PLZF-RARα-positive APL appear to be resistant to both ATRA and ATO, so combined chemotherapy and allo-HSCT should be considered. Since the prognosis and long-term outcome are poor, more clinical trials, and researches should be taken.
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Project description:MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case. Case 1 had tonic-clonic seizures and electroencephalography showed focal seizures, for which he was given oxcarbazepine, levetiracetam, and clonazepam as the antiepileptic treatment to control seizures. Case 3 experienced one absence seizure and three head-nodding seizures with normal electroencephalographic findings during these seizures, and therefore, he was not given antiepileptic treatment. In each case, recurrent infection was improved with the increase in age, but there were no significant improvements in language or intelligence. Array-based comparative genomic hybridization (aCGH) showed MECP2 duplication in X chromosome in each case, and so they were diagnosed with MDS. MDS should be considered for children with delayed development complicated by recurrent infection and epileptic seizures, and early aCGH helps with the diagnosis of this disease.
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Project description:Background Avascular necrosis of the hamate (hamate-AVN) is a seldom reported disease of which little is known on etiology, best treatment modalities, and outcome. Hamate-AVN can occur in multiple locations within the hamate. Case Description Case one was an 8-year-old girl with painful AVN of the hamate hook. Surgical excision of the hook was performed, leading to excellent results (follow-up 8 years). Case two was a 44-year-old man with hamate-AVN of the proximal pole surgically treated with a vascularized bone graft from the radius based on the fifth extensor compartment artery, leading to excellent results (follow-up 7 years). Case three was a 36-year-old woman with hamate-AVN of the proximal pole surgically treated with débridement and cancellous bone grafting, leading to poor results (follow-up 1 year). Literature Review Nine other cases of avascular necrosis of the hamate were found in literature, all but one treated surgically. Etiology, treatment, and results of these cases, combined with our own cases, are reviewed. Clinical Relevance This article summarizes and synthesizes all presented cases of avascular necrosis of the hamate. We hope this will be helpful to physicians in decision making when confronted with this rare entity. Level of Evidence 4.
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Project description:Background Schwannoma is a benign tumor, of which degenerated schwannoma is a subtype. Retroperitoneal schwannomas are extremely rare, as they account for only 3% of retroperitoneal tumors.Degenerated schwannoma is a schwannoma subtype. However,degenerated schwannoma occurring in the adrenal glands is extremely rare. Case summary Case 1: A 42-year-old man was referred to our hospital for further examination of a left adrenal mass that was incidentally discovered during a routine physical check-up.No significant abnormalities were found in laboratory tests results. Robotic-assisted laparoscopic excision of the left adrenal gland was performed under general anesthesia. Case 2: A 47-year-old man was admitted to the hospital because of a left adrenal mass found on a routine physical examination.The patient was previously in good health, and there was no family history of a similar disorder. Left-sided laparoscopic adrenalectomy was performed under general anaesthesia. Case 3: A 62-year-old woman with hypertension and diabetes mellitus was referred to our hospital after an incidentally found left adrenal mass.There was no family history of a similar disorder. Left-sided laparoscopic adrenalectomy was performed under general anaesthesia. None of the patients had a recurrence in our study during the postoperative follow-up. Conclusion Degenerated schwannoma of the adrenal glands is very rare. The clinical presentations of degenerated schwannoma are nonspecific; a small number of patients do not have any symptoms, and the mass is only found incidentally during physical examination for any number of reasons. The preoperative diagnosis of adrenal degenerated schwannoma is difficult because the diagnosis must rely on pathological examination and immunohistochemistry assays. The management is surgical excision and regular follow-up.
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Project description:BackgroundVarious cutaneous manifestations have been observed in patients with COVID-19 infection. However, overall similarities in the clinical presentation of these dermatological manifestations have not yet been summarized.ObjectiveThis review aims to provide an overview of various cutaneous manifestations in patients with COVID-19 through three case reports and a literature review.MethodsA literature search was conducted using PubMed, OVID, and Google search engines for original and review articles. Studies written in the English language that mentioned cutaneous symptoms and COVID-19 were included.ResultsEighteen articles and three additional cases reported in this paper were included in this review. Of these studies, 6 are case series and 12 are case report studies. The most common cutaneous manifestation of COVID-19 was found to be maculopapular exanthem (morbilliform), presenting in 36.1% (26/72) patients. The other cutaneous manifestations included: a papulovesicular rash (34.7%, 25/72), urticaria (9.7%, 7/72), painful acral red purple papules (15.3%, 11/72) of patients, livedo reticularis lesions (2.8%, 2/72) and petechiae (1.4%, 1/72). Majority of lesions were localized on the trunk (66.7%, 50/72), however, 19.4% (14/72) of patients experienced cutaneous manifestations in the hands and feet. Skin lesion development occurred before the onset of respiratory symptoms or COVID-19 diagnosis in 12.5% (9/72) of the patients, and lesions spontaneously healed in all patients within 10 days. Majority of the studies reported no correlation between COVID-19 severity and skin lesions.ConclusionInfection with COVID-19 may result in dermatological manifestations with various clinical presentations, which may aid in the timely diagnosis of this infection.
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Project description:BackgroundFemoral shaft fractures (FSFs) are a frequent injury in traumatology for which intramedullary nailing (IMN) is considered the gold standard treatment. Nonunion (NU) is one of the most frequent complications in FSF treated with IMN, with a percentage from 1.1% to 14%. Plate augmentation (PA), the addition of a compression plate and screws, with or without bone graft has been described as an effective option for the treatment of NU, improving the biomechanical conditions at the fracture site. The aim of this review was to analyze the literature relating to the use of PA in NU after IMN in FSFs to assess the efficacy of the technique.MethodsAn electronic search on PubMed, Google Scholar, and Web of Science was conducted to search for all studies concerning PA of femoral shaft NUs after IMN.ResultsTwenty-four studies were included in the review comprising a total of 502 patients with a mean age of 39.5 years. Of these, 200 hundred patients had atrophic pseudoarthrosis and 123 had hypertrophic pseudoarthrosis, while in 179, the type of pseudoarthrosis was not reported. The most frequently used plate for PA was the dynamic compression plate (DCP); in 87.1% of the cases, the authors added a bone graft to the plate fixation. In 98.0% of the patients, a complete bone union was achieved in a mean time of 5.8 ± 2.12 months.ConclusionThe patients treated with PA included in this review showed a good rate of consolidation in the femoral shaft NUs, with good functional recovery and a low incidence of complications.
| S-EPMC9598798 | biostudies-literature
Project description:ObjectiveTo report the efficacy and safety of CT-guided percutaneous laser ablation (PLA) for metastatic lung tumors.MethodsThree cases of metastatic lung cancer underwent CT-guided PLA, and we searched for previously published articles on the minimally invasive CT-guided RFA or MWA for lung tumors in recent five years.ResultsWith the guidance of CT, all lesions had good prognosis under laser ablation. Case 1 suffering from severe pulmonary dysfunction and diffuse pulmonary bullae, had small pneumothorax. CT scan obtained four months following the ablation showed two lesions had complete responses and one partial response. Case 2 had successful complete response with absent lung mass, and also had a good postoperative condition without any discomfort in the two-month follow-up. Case 3 showed partial response and improved greatly after five months. 962 cases (mean age of 45.7 years, 62.2% male) of 1297 lung tumors with detailed information were identified from 27 articles. Of these cases, the minority manifested complications such as pneumothorax, hemoptysis, hemothorax, pneumonia, pain and fever.ConclusionsPercutaneous CT-guided PLA could be a safe and promising minimally invasive treatment for patients with primary lung cancer or unresectable pulmonary metastases, especially multineedle PLA in large tumors, which still needs more large-scale prospective studies to convince this method in the future.
| S-EPMC5356791 | biostudies-literature