Depressed Whole Blood Serotonin Levels Associated With Behavioral Abnormalities in the de Lange Syndrome

PEDIATRICS ◽  
1973 ◽  
Vol 52 (5) ◽  
pp. 720-724
Author(s):  
Alan Greenberg ◽  
Mary Coleman
Keyword(s):  
Whole Blood ◽  
Congenital Anomalies ◽  
Case Reports ◽  
English Literature ◽  
Clinical Findings ◽  
Blood Serotonin ◽  
Behavioral Abnormalities ◽  
Criteria For Diagnosis ◽  
Cornelia De Lange ◽  
Recent Monograph

In 1933 Cornelia de Lange first described two infants with a striking appearance and a pattern of congenital anomalies which she named "typus degenerativus amstelodamensis."1 Subsequently, other cases of this syndrome were reported in the European literature, but it was not until 1963 that the syndrome attracted attention in this country with the publication of case reports in the American and English literature.2-6 The patients have a distinctive appearance (Fig. 1) which becomes more apparent as they grow older. However, the diagnosis can be difficult during infancy. In a recent monograph, Berg et al.7 suggested that a useful criteria for diagnosis is eight or more of the following clinical findings:

scholarly journals Coronavirus disease 2019 infection and pituitary apoplexy: A causal relation or just a coincidence? A case report and review of the literature

2021 ◽  
Vol 12 ◽  
pp. 317
Author(s):  
Walaa A. Kamel ◽  
Mustafa Najibullah ◽  
Mamdouh S. Saleh ◽  
Waleed A. Azab
Keyword(s):  
Mr Imaging ◽  
Causal Relation ◽  
Histopathological Examination ◽  
Case Reports ◽  
English Literature ◽  
Clinical Findings ◽  
Oculomotor Nerve Palsy ◽  
Future Research ◽  
Endoscopic Endonasal ◽  
Transsphenoidal Resection

Background: Pituitary tumor apoplexy (PA) is an emergency condition caused by hemorrhage or infarction of the preexisting adenoma. Many factors are currently well-known to predispose to PA. However, during the period of coronavirus disease 2019 (COVID-19) pandemic, case reports of PA associated with COVID-19 infection have been sequentially published. To the best of our knowledge, four cases have been reported so far in the English literature. We herein report the fifth case of this association and review the pertinent literature. Case Description: A 55-year-old male patient with confirmed COVID-19 infection presented by progressive decrease in visual acuity and oculomotor nerve palsy. His medical history is notable for diabetes mellitus, hypertension, and pituitary macroadenoma resection 11 years ago. He was on hormonal replacement therapy for panhypopituitarism that complicated the surgery. Previous magnetic resonance (MR) imaging studies were consistent with enlarging residual pituitary adenoma. During the current hospitalization, computed tomography revealed hyperdensity of the sellar and suprasellar areas. MR imaging revealed PA in a recurrent large adenoma. Endoscopic endonasal transsphenoidal resection was uneventfully undertaken with near total excision of the adenoma and partial improvement of visual loss and oculomotor palsy. Histopathological examination demonstrated classic features of PA. However, his chest condition progressed and he had to be transferred to COVID-19 intensive care unit in the referring hospital where he was intubated and put on mechanical ventilation. One week later, the patient unfortunately passed away due to complications of severe COVID-19 pneumonia. Conclusion: We report the fifth case of PA associated with COVID-19 infection. Based on our patient’s clinical findings, review of the other reported cases, as well as the available literature, we put forth a multitude of pathophysiological mechanisms induced by COVID-19 that can possibly lead to the development of PA. In our opinion, the association between both conditions is not just a mere coincidence. Although the histopathological features of PA associated with COVID-19 are similar to PA induced by other etiologies, future research may disclose unique pathological fingerprints of COVID-19 virus that explains its capability of inducing PA.

scholarly journals Implant Treatment with 12-Year Follow-Up in a Patient with Severe Chronic Periodontitis: A Case Report and Literature Review

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Keisuke Seki ◽  
Yoshiyuki Hagiwara
Keyword(s):  
Periodontal Disease ◽  
Chronic Periodontitis ◽  
Case Reports ◽  
English Literature ◽  
Supportive Therapy ◽  
Periodontal Treatment ◽  
Periodontal Tissues ◽  
Severe Periodontitis ◽  
And Control ◽  
Implant Treatment

Tooth loss among adults is associated with progressive periodontitis. Implant prosthetic treatment has long been utilized in periodontal patients. Even when the implants are applied, ongoing management of periodontal disease and control of inflammation is necessary to maintain a healthy oral cavity. Lack of appropriate periodontal treatment can result in recurrence of periodontal disease during a maintenance period; loss of the supportive capacity of the periodontal tissues will increase the susceptibility of residual teeth to traumatic force. For this reason, it is worthwhile to improve oral function by applying implants as a fixed device. Here, we report that implant treatment in a patient with generalized severe chronic periodontitis helped maintain the periodontal and peri-implant tissue for a long term. We propose that initial periodontal treatment and ongoing supportive therapy can help maintain implants in patients with severe periodontitis. In addition, we reviewed case reports in the English literature so far.

2P-0533 Plasma and whole blood serotonin concentrations are novel makers for vasospastic angina pectoris

2003 ◽  
Vol 4 (2) ◽  
pp. 156
Author(s):  
H. Takahashi ◽  
K. Hara ◽  
M. Yoshika ◽  
Y. Nagahama ◽  
Y. Tshuka ◽  
...  
Keyword(s):  
Angina Pectoris ◽  
Whole Blood ◽  
Vasospastic Angina ◽  
Blood Serotonin ◽  
Vasospastic Angina Pectoris

A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

PEDIATRICS ◽  
1971 ◽  
Vol 47 (3) ◽  
pp. 610-612
Author(s):  
Richard L. Neu ◽  
Tadashi Kajii ◽  
Lytt I. Gardner ◽  
Stephen F. Nagyfy ◽  
Saddie King
Keyword(s):  
Corpus Callosum ◽  
Congenital Anomalies ◽  
Congenital Abnormalities ◽  
Clinical Findings ◽  
Cytogenetic Abnormality ◽  
Multiple Congenital Anomalies ◽  
Multiple Congenital Abnormalities

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.

Acute Herpetic Nasopharyngitis in an Adult Patient: A Case Report and Literature Review

2022 ◽  
pp. 000348942110701
Author(s):  
Cathleen C. Kuo ◽  
Ellen M. Piccillo ◽  
Jason C. DeGiovanni ◽  
Matt Kabalan ◽  
Gregg Zimmer ◽  
...  
Keyword(s):  
Literature Review ◽  
Adult Patient ◽  
Soft Palate ◽  
Case Reports ◽  
Nasal Congestion ◽  
English Literature ◽  
Immunohistochemical Analysis ◽  
Anatomical Location ◽  
Posterior Aspect ◽  
Mesh Terms

Objective: To report a case of herpes virus-associated nasopharyngitis in an adult patient. Methods: The patient’s medical record was reviewed for demographic and clinical data. For literature review, all case reports or other publications published in English literature were identified using Pubmed with the MeSH terms “herpes,” “nasopharyngitis,” and “upper respiratory infection.” Results: A 40-year-old male presented for nasal congestion and a suspected nasal mass. Computed tomography of the sinuses revealed edematous changes in the nasopharynx which exerted a downward mass effect at the right aspect of the soft palate. Flexible fiberoptic laryngoscopy (FFL) revealed a lesion arising from the posterior aspect of the soft palate with extension into the posterior nasal cavity as well as copious mucopurulent secretions consistent with a superimposed acute sinusitis. Rigid nasal endoscopy demonstrated a friable and ulcerated lesion arising from the aforementioned anatomical location. Biopsy of this lesion and subsequent immunohistochemical analysis revealed a diagnosis of herpetic nasopharyngitis. Conclusions: Herpetic infection should be in the differential diagnosis of patients presenting with atypical symptoms of nasopharyngitis. Early accurate diagnosis and appropriate specific management can limit the duration of disease course and prevent further complications.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

Massive Intravascular Hemolysis From Clostridium perfringens Septicemia

2013 ◽  
Vol 29 (6) ◽  
pp. 327-333 ◽  
Author(s):  
Tracey G. Simon ◽  
Joanna Bradley ◽  
Adisa Jones ◽  
Gerardo Carino
Keyword(s):  
Clostridium Perfringens ◽  
Patient Survival ◽  
Case Reports ◽  
English Literature ◽  
Case Series ◽  
Surgical Removal ◽  
Chi Square ◽  
Data Set ◽  
Male Mortality ◽  
Time To Death

We describe the case of a patient with hemolysis-associated Clostridium perfringens septicemia and review all similar cases published in the literature since 1990, with specific focus on the relationship between treatment strategy and survival. We searched PubMed for all published cases of C. perfringens-associated hemolysis, using the medical subject terms “clostridia,” “clostridial sepsis,” and/or “hemolysis.” All case reports, case series, review articles, and other relevant references published in the English literature since 1990 were included in this study. There were no exclusion criteria. Each case was examined with respect to presenting features of illness, antibiotic regimen, time-to-antibiotic therapy, additional interventions, complications, and patient survival. These variables were entered into a data set and then systematically analyzed with the aid of a statistician, using serial t tests and chi-square analyses. Since 1990, 50 patients of C. perfringens septicemia with hemolysis have been reported. Median age was 61 years (range 31-84), and 58% were male. Mortality was 74%, with a median time to death of 9.7 hours (range 0-96 hours). Of the patients, 35 (70%) were treated medically, while 15 (30%) received antibiotics and surgery. Surgical intervention was associated with significantly improved survival (risk ratio [RR] 0.23, 95% confidence interval [CI] 0.10, 0.53) as was the use of a combination of penicillin and clindamycin (RR of death 0.46, 95% CI 0.25, 0.83). Four patients utilizing hyperbaric oxygen therapy (HBOT) have been reported, and all patients survived. In cases of clostridial sepsis with hemolysis, strong predictors of survival include early initiation of appropriate antibiotics as well as surgical removal of infected foci. The HBOT may also be associated with survival. The disease often progresses rapidly to death, so rapid recognition is critical for the patient survival.

scholarly journals Lymphoepithelioma-Like Carcinoma of the Breast: A Case Report Unveiling Several Clinical and Histopathological Challenges

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Tarek Aridi ◽  
Mohamad Fawwaz ◽  
Ahmad Kassab ◽  
Marwan Bahmad ◽  
Faisal Houcheimi ◽  
...  
Keyword(s):  
Case Reports ◽  
Progesterone Receptors ◽  
Radical Mastectomy ◽  
Residual Tumor ◽  
Excisional Biopsy ◽  
Axillary Lymph ◽  
Tumor Type ◽  
Estrogen And Progesterone Receptors ◽  
Type Iv ◽  
Criteria For Diagnosis

Lymphoepithelioma-like carcinoma (LELC) of the breast is an extremely rare tumor type. Histologically, it mimics undifferentiated nasopharyngeal carcinoma by demonstrating nests of neoplastic epithelial cells in a background of lymphoplasmacytic infiltrates. This paper reports a 62-year-old female patient with a 3 × 1.5 cm BI-RADS type IV breast mass diagnosed on excisional biopsy as LELC. The tumor is negative for estrogen and progesterone receptors and did not overexpress HER2/neu. Routine tests for clearance before surgery were performed, and patient was managed by a modified radical mastectomy with axillary lymph node dissection showing no residual tumor. Surgical CAse REports (SCARE) guidelines were followed for reporting our case. The rarity of LELC of the breast warrants the establishment and implementation of well-defined guidelines and criteria for diagnosis and management.

scholarly journals A rare case of metachronous neuroendocrine tumor after a colorectal adenocarcinoma: qualitative critical review of synchronous and metachronous gastrointestinal NET

2020 ◽  
Author(s):  
Francesco Lancellotti ◽  
Luigi Solinas ◽  
Davide Telesco ◽  
Andrea Sagnotta ◽  
Augusto Belardi ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Colorectal Adenocarcinoma ◽  
Retrospective Studies ◽  
Case Reports ◽  
English Literature ◽  
Case Series ◽  
Population Based ◽  
Review Articles ◽  
Gastrointestinal Neuroendocrine Tumor

Abstract Gastrointestinal neuroendocrine tumor (NET) associated with a metachronous intestinal adenocarcinoma is rare. We report the case of a 71-year-old man with an ileal NET. Patient has previously undergone a left colectomy for sigmoid cancer. We report a complete review both of the metachronous and synchronous NET. A comprehensive systematic literature search in PubMed, EMBASE, and MEDLINE identified a total of 35 relevant studies. This study includes an analysis of review articles, case reports, case series, retrospective studies and population-based studies. In the English literature to date, there are 21 case reports (19 synchronous cases and 2 metachronous cases), 3 case series and 3 review articles, and less than 10 retrospective studies or population-based studies. A total of 31 patients in 24 articles were included in the study: 28 patients with a synchronous gastrointestinal NET and colorectal adenocarcinoma and 3 patients with metachronous gastrointestinal NET and colorectal adenocarcinoma. The incidence of synchronous cancer (particularly for colorectal and gastric cancer) with a gastrointestinal NET ranges from 10 to 50%, while for the metachronous ones it is still unclear. This is the third metachronous case report and the first descriptive case of gastrointestinal NET diagnosed 2 years after a colorectal adenocarcinoma. An endoscopic follow-up program for gastrointestinal NET patients and/or for first-degree relatives of NET patients appears recommendable.

Sign in / Sign up

Export Citation Format

Share Document