scholarly journals Congenital dislocation of the knee in combination with Meyer-Gorlin syndrome: A case report

2021 ◽  
Vol 9 (4) ◽  
pp. 447-454
Author(s):  
Igor Y. Kruglov ◽  
Nicolai Y. Rumyantsev ◽  
Gamzat G. Omarov ◽  
Natalia N. Rumyantseva ◽  
Ilya M. Kagantsov
Keyword(s):  
Clinical Case ◽  
Clinical Manifestations ◽  
Knee Dislocation ◽  
Congenital Dislocation ◽  
Gorlin Syndrome ◽  
Orthopedic Surgeons ◽  
First Case ◽  
Congenital Knee Dislocation ◽  
Classical Triad ◽  
Pediatric Orthopedic

BACKGROUND: Meyer-Gorlin syndrome is a rare genetic and autosomal recessive disease that is characterized by the classical triad, including, microtia, very small size or complete patellar absence, and nanism. CLINICAL CASE: Herein, presented the first clinical case description of a Russian patient with Meyer-Gorlin syndrome in combination with congenital anterior shin dislocation. The main clinical disease manifestations are characterized by a combination of microtia, patellar pathology, and dwarfism. DISCUSSION: In the practice of pediatric orthopedic surgeons, cases of congenital knee dislocations are extremely rare, especially as part of any syndromes, which cause interest in the presented clinical case publication. Our patient analysis, as well as the patients described in the literature, showed the presence of typical clinical manifestations, which allowed us to suspect the presence of Meyer-Gorlin syndrome during a clinical examination. CONCLUSIONS: This report is the first case of combined congenital knee dislocation and Meyer-Gorlin syndrome with a diagnostic triad (short stature, microtia, and patellar aplasia) in the Russian Federation. Conservative treatment with constant traction and flexion must be carefully performed to avoid complications. Without the effect of conservative therapy, surgical treatment is indicated.

scholarly journals Congenital dislocation of the knee: a morphological study

2021 ◽  
Vol 8 (4) ◽  
pp. 427-435
Author(s):  
Igor Yu. Kruglov ◽  
Olga E. Agranovich ◽  
Nicolai Yu. Rumyantsev ◽  
Olga Yu. Razmologova ◽  
Andrey V. Kolobov ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Comparison Group ◽  
Knee Dislocation ◽  
Control Group ◽  
Congenital Dislocation ◽  
Autopsy Material ◽  
Anatomical Structures ◽  
Congenital Knee Dislocation ◽  
System 1 ◽  
Stillborn Fetus

Background. Congenital knee dislocation is a rare disease of the musculoskeletal system (1 in 100,000 live births). In the literature, few studies have described the anatomical changes characteristic of this pathology, which are only revealed during surgical treatment. Aim. This study aimed to evaluate the pathomorphological features of the ligamentousarticular apparatus and thigh muscles with congenital knee dislocation on autopsy material. Materials and methods. The study included two fetuses with bilateral congenital knee dislocation after spontaneous miscarriage at 18 and 20 weeks of gestation and one stillborn fetus with bilateral congenital knee dislocation at 29 weeks of gestation. The comparison group was composed of two fetuses after spontaneous miscarriages at 18 and 20 weeks of gestation and one stillborn fetus at 25 weeks of gestation without anomalies of the lower extremities. Results. Various abnormalities and displacements of the anatomical structures, as well as degenerative dystrophic changes in the soft tissues during histological examination, were found. Pathomorphological changes in the control group were not detected. Conclusion. Pathomorphological changes are the main manifestations of congenital knee dislocation in the studied fetuses.

scholarly journals Miller Fisher syndrome developed after a previous COVID-19 infection (case report)

2021 ◽  
Vol 11 (2) ◽  
pp. 56-60
Author(s):  
V. A. Malko ◽  
P. V. Klimov ◽  
M. P. Topuzova ◽  
I.  V. Yarush ◽  
K. V. Simakov ◽  
...  
Keyword(s):  
Clinical Case ◽  
Clinical Manifestations ◽  
Acute Onset ◽  
Miller Fisher Syndrome ◽  
Complete Regression ◽  
Speech Impairment ◽  
Fisher Syndrome ◽  
Coronavirus Infection ◽  
Clinical Triad ◽  
Classical Triad

Miller Fisher syndrome is one of the forms of Guillain–Barrе́ syndrome, characterized by a clinical triad that includes ophthalmoplegia, ataxia and areflexia, with the possible addition of moderate peripheral tetraparesis. During the year that has passed since the start of the pandemic of the new coronavirus infection COVID‑19, international publications have presented a few cases of Miller Fisher syndrome, which developed in patients at different times after the COVID‑19 infection – from 3–5 days to 3 weeks. The article presents a description of a clinical case of Miller Fisher syndrome, which occurred with 34‑year‑old man 21 days after the COVID‑19 infection. The clinical manifestations of Miller Fisher syndrome were typical and included diplopia, areflexia, and ataxia. At the beginning of the disease, there was a transient episode of speech impairment in the form of mild dysarthria. Oculomotor disorders predominated in the clinical picture over other components of the classical triad. On the background of treatment with human immunoglobulin G, there was a complete regression of symptoms.This description of Miller Fisher syndrome, which developed after the postponed infection with COVID‑19, is the first in Russia. The presented case demonstrates the ability of the SARS‑CoV‑2 virus to induce the development of an autoimmune disease. Practitioners should take into account the possibility of Miller Fisher syndrome developing in the event of an acute onset of diplopia, ataxia and areflexia in patients after a previous COVID‑19 infection.

Clinical case of lung lesions in patient with newly diagnosed systemic lupus erythematosus

2019 ◽  
Vol 1 (9) ◽  
pp. 53-57
Author(s):  
T. N. Gavva ◽  
L. V. Kuzmenkova ◽  
Yu. N. Fedulaev ◽  
T. V. Pinchuk ◽  
D. D. Kaminer ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Lung Damage ◽  
Newly Diagnosed ◽  
Systemic Lupus ◽  
Lung Lesions ◽  
Laboratory Parameters ◽  
Clinical Interest

A case of lung damage in systemic lupus erythematosus (SLE) in a 33-year-old woman is described. This case is of clinical interest due to the complexity of diagnosis due to the fact that SLE is a disease with diverse clinical manifestations involving many organs and systems, which often makes it difficult to timely recognize the onset of the disease. SLE still remains a challenge and requires special attention to the patient s history, clinical and laboratory parameters of the patient, as well as specific immunological examinations.

Congenital Knee Dislocation: Which Classification to Follow?

2020 ◽  
Vol 14 (1) ◽  
pp. 58-59
Author(s):  
Punit Tiwari ◽  
Sergey S. Leonchuk ◽  
Harmeet Kaur ◽  
Gaurav Sharma
Keyword(s):  
Knee Dislocation ◽  
Congenital Knee Dislocation

scholarly journals Upbeat vertical nystagmus after brain stem cavernoma resection: a rare case of nucleus intercalatus/nucleus of roller injury

2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  
Keyword(s):  
Rare Case ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Neurological Injury ◽  
Medial Longitudinal Fasciculus ◽  
Blurred Vision ◽  
Complete Excision ◽  
First Case ◽  
Vertical Nystagmus ◽  
Upbeat Nystagmus

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.

scholarly journals Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shuchen Gu ◽  
Yimin Khoong ◽  
Xin Huang ◽  
Tao Zan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Manifestations ◽  
Sporadic Case ◽  
Facial Cleft ◽  
Ocular Manifestations ◽  
First Case ◽  
Whole Exome ◽  
Chinese Girl ◽  
Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

scholarly journals 369. Clinical Characteristics of the First 177 Patients Admitted with COVID-19 at a Bronx Community Hospital

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S254-S254
Author(s):  
Victoria Bengualid ◽  
Maria Martinez ◽  
Zhenisa Hysenaj ◽  
Debra M Willner ◽  
Judith Berger
Keyword(s):  
Oxygen Saturation ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Retrospective Chart Review ◽  
Patient Characteristics ◽  
Altered Mental Status ◽  
Channel Blockers ◽  
First Case ◽  
Overall Mortality

Abstract Background The first case of COVID-19 was admitted on March 15th 2020 to our community based hospital in the Bronx, NY. The aim of this study is to describe the clinical characteristics and outcome of these first COVID-19 patients. Patient Characteristics and Outcome Methods IRB approved retrospective chart review study of all COVID-19 patients admitted during March 2020 focusing on patient characteristics, co-morbidities, clinical manifestations and outcome. Results A total of 177 patients were admitted during March 2020: 57% African American 23.1% Hispanic and 16.9% White. 44.9% female, average age 60 years, and 90% had at least one comorbidity. Outcome was available on all patients except for one who was transferred to another institution for ECMO. Overall mortality was 33%. Clinical presentation: 69.4% presented with cough or shortness of breath, 15.8% with diarrhea, nausea, vomiting or abdominal pain, and 14.6% with myalgia, dizziness or altered mental status. 6.2% presented only with fever. However 59.8% of patients presented with fever and respiratory or gastrointestinal symptoms. Mortality The table compares patients who died vs discharged (either home or to a short term facility). Those that were 65 years or older, hypertensive or presented to the ER with an oxygen saturation of 94% or lower, were more likely to die. Ventilated patients: 31.6% of patients were intubated with a mortality rate of 77%. 22% of these patients were intubated in the first 24 hours. Compared to non-intubated patients, there was no difference in BMI, diabetes, hypertension, COPD/Asthma, use of statins, aspirin or calcium channel blockers. Intubated patients older than 64 years had significantly higher mortality rates (p=0.0001). Conclusion This cohort of COVID-19 patients is unique as almost all received Hydroxychloroquine and Azithromycin. Only 9% received steroids and even fewer received an interleukin-6 inhibitor, convalescent plasma or Remdesivir. African Americans and Hispanics accounted for 80% of patients. Greater than 90% received Medicaid. Overall mortality was 33%. The most common presentation was respiratory followed by gastrointestinal symptoms. The overall mortality was 33% but increased to 77% in intubated patients. Age, hypertension, and ER oxygen saturation correlated with mortality. Disclosures All Authors: No reported disclosures

scholarly journals A Case of COVID-19-Related Thrombocytopenia and Leukopenia in an Adolescent with Mild Symptoms

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 509
Author(s):  
Lydia Kossiva ◽  
Athanasios Thirios ◽  
Eleni Panagouli ◽  
Alexandros Panos ◽  
Stavroula Lampidi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Viral Infection ◽  
Nasal Congestion ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
White Blood Count ◽  
Chronic Obstructive ◽  
First Case ◽  
The Impact

Since the beginning of the COVID-19 pandemic, there have been numerous reports and reviews on the complications caused by the disease, analyzing the acute and chronic consequences. The main symptoms of SARS-CoV-2 are dry cough, fever, and fatigue. COVID-19 appears to affect all systems, including renal, cardiovascular, circulatory, and respiratory systems, causing chronic obstructive pulmonary disease. We report on a 14-year-old male adolescent, who presented with thrombocytopenia (platelet count 92 × 109 /L) and leukopenia (white blood count 4.2 × 103 /μL) that was observed two months ago. Ten days before the first blood test, a viral infection with nasal congestion and runny nose was reported, without other accompanying symptoms. Viral antibodies screening revealed positivity for all the three specific COVID-19 antibodies. Further haematological evaluation with bone marrow aspiration revealed non-specific dysplastic features of the red cell and megakaryocyte progenitors. Although haematological alterations due to COVID-19 infection are available from adult patients’ reports, the effect of COVID-19 infection in the pediatric population is underestimated and this is the first case with such haematological involvement. Noteworthy, in the current case, the impact of the COVID-19 infection was not related to the severity of the disease, as the symptoms were mild. In similar cases, bone marrow aspiration would not be performed as a part of routine work-up. Thus, it is important when evaluating pediatric patients with COVID-19 infection to search and report those alterations in order to better understand the impact and the spectrum of clinical manifestations of the specific viral infection in children and adolescents.

scholarly journals The Syndrome of Carnitine Deficiency: Morphological and Metabolic Correlations in Two Cases

1978 ◽  
Vol 5 (2) ◽  
pp. 205-213 ◽  
Author(s):  
G. Scarlato ◽  
G. Pellegrini ◽  
C. Cerri ◽  
G. Meola ◽  
A. Veicsteinas
Keyword(s):  
Lactic Acid ◽  
Muscle Tissue ◽  
Clinical Manifestations ◽  
Carnitine Deficiency ◽  
Type I ◽  
Work Intensity ◽  
Morphological Alterations ◽  
Ultrastructural Studies ◽  
First Case ◽  
Type I Fibers

SUMMARY:Two cases of systemic carnitine deficiency are described. In both patients, carnitine concentration was lower than normal in serum and muscle tissue. In the first case, the illness began at age 35; the clinical manifestations were only muscular. In the second case, the illness began in childhood; there were intermittent episodes of hepatic enlargement and coma. An excessive lipid content was present in muscle tissue, especially in type I fibers, of both cases, and in the liver of the second patient. Ultrastructural studies of muscle tissue revealed important changes of mitochondria.During muscular exercise, aerobic and anaerobic metabolism were in vestigated. For a given relative work intensity, these patients showed abnormally high blood lactic acid concentration and lactic acid/pyruvic acid ratios. These data, together with the morphological alterations observed in mitochondria, suggest an impaired function of the respiratory chain, leading to a shift of the red/ox potential of the tissue towards a non reduced state.

scholarly journals Clinical improvement by farnesyltransferase inhibition in NK large granular lymphocyte leukemia associated with imbalanced NK receptor signaling

Blood ◽  
2008 ◽  
Vol 112 (12) ◽  
pp. 4694-4698 ◽  
Author(s):  
P. K. Epling-Burnette ◽  
Lubomir Sokol ◽  
Xianhong Chen ◽  
Fanqi Bai ◽  
Junmin Zhou ◽  
...  
Keyword(s):  
Pulmonary Artery ◽  
Clinical Manifestations ◽  
Erythroid Differentiation ◽  
Pulmonary Artery Hypertension ◽  
Large Granular Lymphocyte ◽  
Receptor Signaling ◽  
Pulmonary Endothelial Cells ◽  
First Case ◽  
Nk Receptor ◽  
Lgl Leukemia

Abstract Large granular lymphocyte (LGL) leukemia is commonly associated with poor hematopoiesis. The first case of pulmonary artery hypertension (PAH) was observed in a 57-year-old woman with natural killer (NK)–LGL leukemia and transfusion-dependent anemia. Using a genetic approach, we demonstrated that killing of pulmonary endothelial cells by patient NK cells was mediated by dysregulated balance in activating and inhibitory NK-receptor signaling. Elevated pulmonary artery pressure and erythroid differentiation improved after disrupting the NK-receptor signaling pathway with 4 courses of a farnesyltransferase inhibitor, tipifarnib. Coincidental association between PAH and LGL leukemia suggest a causal relationship between the expanded lymphocyte population and these clinical manifestations. This trial is registered at www.ClinicalTrials.gov as NCI 6823.

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