scholarly journals Arthrogryposis multiplex congenita - a rare congenital stiff joints syndrome

2006 ◽  
Vol 59 (7-8) ◽  
pp. 375-379 ◽  
Author(s):  
Gordana Velisavljev-Filipovic
Keyword(s):  
Case Report ◽  
Cervical Vertebrae ◽  
Arthrogryposis Multiplex Congenita ◽  
Ulnar Deviation ◽  
Left Hand ◽  
True Incidence ◽  
The Family ◽  
Stiff Joint ◽  
Reduced Mobility ◽  
Flexion And Extension

Introduction: Arthrogryposis multiplex congenita is not a disease but a term describing multiple congenital contractures. Etiological factors include neurological and primary myogenic diseases. This rare syndrome is present at birth and is characterized by reduced mobility of many joints. The contractures involve two or more joints with ankylosis. The accompanying musculature is hypoplastic, but multiple pterygia are also present. Arthrogryposis multiplex congenita is a heterogeneous group of disorders with the incidence rate of 6.2/100000 liveborn infants. The true incidence cannot be established, because many cases result in spontaneous miscarriages or stillbirth. More than 90% of cases are associated with birth defects. The cause of this syndrome is unknown. Many forms are not hereditary, though there are hereditary forms as well. Case report. This paper presents a case with arthrogryposis multiplex congenita. The pregnancy was not controlled regularly. During the pregnancy, oligohydramnion was detected. Due to contractures, labor ended is cesarean section. The child was born in the 34th week of gestation. Flexion and extension joint contractures were observed. Active and passive mobility of the afflicted joints was reduced. There was a limited motor function in the shoulder, elbow and wrist joints with a slight internal rotation of the shoulder joint and lower arm joints during pronation. The hips were subluxated; the feet were in equinovarus position and the fingers in ulnar deviation with partial syndactyly of the 4th and 5th fingers on the left hand. The infant had abnormal dermatoglyphics. The neck was short, and the 2nd and 3rd cervical vertebrae were fused. There was also a slight left-sided thoracic scoliosis. Trismus was present due to the existing ankylosis of the temporomandibular joint. The karyotype was normal. The serum creatinine phosphokinase was slightly elevated. The electromyographic picture indicate non-specific signs of myopathy. Discussion and conclusion. This is a case report of a "stiff joint syndrome". Due to the fact that data from the family history were unavailable, we could not establish the type of syndrome. However, heredity, growth and development at later age, as well as IQ, might significantly help in definite differentiation of this syndrome. In pregnancy, oligohydramnion should indicate more detailed ultrasonographic examination, as ankylosed joints can be detected in utero. .

Cerebellar atrophy supporting diagnosis of alcohol dependence: A case report

2016 ◽  
Vol 33 (S1) ◽  
pp. S311-S311
Author(s):  
F. Pavez Reyes ◽  
M. Sánchez ◽  
E. Moral ◽  
M. Terradillos ◽  
N. López ◽  
...  
Keyword(s):  
Case Report ◽  
Alcohol Dependence ◽  
Cerebellar Atrophy ◽  
Clinical Suspicion ◽  
Gamma Glutamyl Transferase ◽  
The Family ◽  
Other Information ◽  
Diagnostic Hypothesis ◽  
Competing Interest ◽  
Glutamyl Transferase

Chronic use of alcohol is a known cause of cerebellar atrophy. This finding could be a valuable diagnosis support when there are not other information sources. In this case report, we describe a 65-year-old male patient who was referred from primary care to specialized consultation because a depressive syndrome it was unresponsive to treatment with desvenlafaxine and lorazepam. In psychopathological exploration we found overvalued ideas of suffering some kind of injury and damage by the family, which oriented the diagnostic hypothesis of delusional disorder with secondary mood symptoms, although the clinical suspicion of abuse of alcohol was proposed as a differential diagnosis. The continuing minimization and denial of consumption by the patient as well as their reluctance to incorporate an external informant made that the workup was a key element to elucidate the diagnosis. We found a discrete increase in transaminases, gamma glutamyl transferase and alkaline phosphatase. Magnetic resonance imaging showed cerebellar atrophy (vermian and, in a lesser extent, in both hemispheres). Once the patient was confronted with these results, he agreed to disclose his problem, which fulfilled alcohol dependence criteria. After that, he accepted to initiate treatment and detoxification in a specialized unity.ConclusionsAlthough psychiatric diagnosis is based on the clinical features and the exclusion of associated medical conditions, in this case the workup provided support to our clinical suspicion, favouring recognition of the problem and willingness to treatment by the patient.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Covid-19 And Sudden Death with Pulmonary Manifestations- A Case Report

2021 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Case Report ◽  
Severe Acute Respiratory Syndrome ◽  
Sudden Death ◽  
Common Cold ◽  
Respiratory Symptoms ◽  
Transmission Dynamics ◽  
Pulmonary Manifestations ◽  
The Family ◽  
The Common ◽  
Virus Strains

Covid 19 being a pandemic has uniformly and bizarrely affected the globe in a most unpredictable manner. So it becomes very important to unravel the transmission dynamics and the effect of the virus which has made it a deadly virus so far. Covid 19 is a member of coronavirus family, which also includes the SARS virus (Severe Acute Respiratory Syndrome) and MERS (Middle East Respiratory Symptoms) virus. The family of Coronavirus includes virus strains that the common cold and flu are caused [1].

Assessment of Muscle Activity and Joint Angles in Small-Handed Pianists: A Pilot Study on the 7/8-Sized Keyboard versus the Full-Sized Keyboard

2006 ◽  
Vol 21 (1) ◽  
pp. 3-9
Author(s):  
B G Wristen ◽  
M C Jung ◽  
A K G Wismer ◽  
M S Hallbeck
Keyword(s):  
Pilot Study ◽  
Research Question ◽  
Wrist Flexion ◽  
Joint Angles ◽  
Ulnar Deviation ◽  
Surface Electrodes ◽  
Musical Excerpt ◽  
Muscle Loading ◽  
Maximal Angle ◽  
Flexion And Extension

This pilot study examined whether the use of a 7/8 keyboard contributed to the physical ease of small-handed pianists as compared with the conventional piano keyboard. A secondary research question focused on the progression of physical ease in pianists making the transition from one keyboard to the other. For the purposes of this study, a hand span of 8 inches or less was used to define a “small-handed” pianist. The goal was to measure muscle loading and hand span during performance of a specified musical excerpt. For data collection, each of the two participants was connected to an 8-channel electromyography system via surface electrodes, which were attached to the upper back/shoulder, parts of the hand and arm, and masseter muscle of the jaw. Subjects also were fitted with electrogoniometers to capture how the span from the first metacarpophalangeal (MCP) joint to the fifth MCP joint moves according to performance demands, as well as wrist flexion and extension and radial and ulnar deviation. We found that small-handed pianists preferred the smaller keyboard and were able to transition between it and the conventional keyboard. The maximal angle of hand span while playing a difficult piece was about 5º smaller radially and 10º smaller ulnarly for the 7/8 keyboard, leading to perceived ease and better performance as rated by the pianists.

scholarly journals Envenomation by neotropical Opisthoglyphous colubrid Thamnodynastes cf. pallidus Linné, 1758 (Serpentes:Colubridae) in Venezuela

2004 ◽  
Vol 46 (5) ◽  
pp. 287-290 ◽  
Author(s):  
Fresnel Diaz ◽  
Luis F. Navarrete ◽  
Jaime Pefaur ◽  
Alexis Rodriguez-Acosta
Keyword(s):  
Case Report ◽  
Marked Improvement ◽  
Middle Finger ◽  
Snake Bite ◽  
Venomous Snake ◽  
Left Hand ◽  
At Home

This is a case report of a "non-venomous" snake bite in a herpetologist observed at the Sciences Faculty of the Universidad de los Andes (Mérida, Venezuela). The patient was bitten on the middle finger of the left hand, and shows signs of pronounced local manifestations of envenomation such as bleeding from the tooth imprint, swelling and warmth. He was treated with local care, analgesics, and steroids. He was dismissed from the hospital and observed at home during five days with marked improvement of envenomation. The snake was brought to the medical consult and identified as a Thamnodynastes cf. pallidus specimen. This report represents the first T. pallidus accident described in a human.

scholarly journals Pulmonary Fibrosis after Pegylated Liposomal Doxorubicin in Elderly Patient with Cutaneous Angiosarcoma

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Marco Mazzotta ◽  
Raffaele Giusti ◽  
Daniela Iacono ◽  
Salvatore Lauro ◽  
Paolo Marchetti
Keyword(s):  
Elderly Patient ◽  
Case Report ◽  
Pulmonary Fibrosis ◽  
Pulmonary Toxicity ◽  
Liposomal Doxorubicin ◽  
Pegylated Liposomal Doxorubicin ◽  
The Body ◽  
Rare Cancer ◽  
True Incidence ◽  
First Case

Introduction. Angiosarcoma is a rare cancer of the inner lining of blood vessels and can arise anywhere in the body, most commonly presenting as cutaneous disease in elderly patient, involving head and neck (H&N), especially the scalp. Pegylated liposomal doxorubicin (PLD) is one of the available treatments in patients with advanced or metastatic disease. Common toxicities are myelosuppression, palmar-plantar erythrodysesthesia, nausea, and stomatitis. Regarding PLD-related pulmonary fibrosis in an uncommon toxicity, there are few cases reported in literature. None of these occurred in angiosarcoma.Methods. This is a case report describing an elderly patient treated with PLD for advanced H&N cutaneous angiosarcoma who developed G5 pulmonary toxicity after the second PLD administration.Results. According to our data and patient clinical outcome, we believe that she passed away from fatal PLD-induced pulmonary fibrosis. This is the first case of fatal interstitial pneumonitis in a 77-year-old woman treated with PLD for angiosarcoma. The case has been reported for its rarity.Conclusions. Pathophysiology of this phenomenon is still unclear and more studies are necessary to understand the true incidence of pulmonary toxicities in patients in treatments with PLD and its mechanism.

scholarly journals Bacteremia Caused by Kocuria kristinae from Egypt: Are There More? A Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Reem M. Hassan ◽  
Dina M. Bassiouny ◽  
Yomna Matar
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Normal Flora ◽  
Gram Positive ◽  
Clinical Specimens ◽  
First Report ◽  
The Family ◽  
Gram Positive Cocci ◽  
Kocuria Kristinae

Kocuria kristinae is opportunistic Gram-positive cocci from the family Micrococcaceae. It is usually considered part of the normal flora that rarely is isolated from clinical specimens. Here, we report a case of Kocuria kristinae bacteremia; to the best of our knowledge, this is the first report from Egypt.

scholarly journals Excellent Functionality Despite Clinico-Radiological Deformity in Osteomyelitis Variolosa - A Case Report

2015 ◽  
Vol 9 (1) ◽  
pp. 114-119
Author(s):  
Aakash Mugalur ◽  
Sunil M Shahane ◽  
Ashwin Samant ◽  
Aditya C Pathak ◽  
Rajeev Reddy
Keyword(s):  
Case Report ◽  
Elbow Joint ◽  
Cortical Thickening ◽  
Diagnostic Challenge ◽  
Left Hand ◽  
Articular Surfaces ◽  
The World ◽  
Radiological Abnormality ◽  
Endemic Areas ◽  
The Right

Despite the eradication of smallpox from the world in 1980 the osteo-articular sequelae of smallpox are still occasionally noticed in previously endemic areas. The sequelae of osteomyelitis variolosa may raise a diagnostic challenge to the untrained eyes of the surgeon. We present a case of “osteomyelitis variolosa” in a 70 years old patient. The patient had bilateral dislocation of the elbow joint with multidirectional instability. There was distortion of the articular surfaces and ankylosis of the bilateral proximal radio-ulnar joint. Hypoplasia of the right ulna with short fourth and fifth metacarpals of the left hand and hypoplasia of right fourth metacarpal with cortical thickening was noted radiologically. The patient had minimal disability of his elbows despite the striking radiological abnormality and was functionally independent.

scholarly journals Late Onset Alzheimer Dementia in Patients with Genotype E3/E4: A Case Report

2021 ◽  
Vol 9 (C) ◽  
pp. 5-9
Author(s):  
Anak Agung Ayu Putri Laksmidewi ◽  
Chiquita Putri Vania Rau
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Case Report ◽  
Mini Mental State Examination ◽  
Late Onset ◽  
Apoe Genotype ◽  
Time Orientation ◽  
Alzheimer Dementia ◽  
The Family ◽  
State Examination

BACKGROUND: Dementia is one of the leading causes of disability and dependence in elderly worldwide. Epidemiological statistics indicate that data show that at about 60–80%, Alzheimer’s is the most common type of dementia. Alzheimer’s is also the third-most prominent cause of death in elderly. CASE REPORT: A 72-years-old male patient, complained by the family often forgets about things that have just been done for 3 years ago. According to the family, patient also often discussing the same things repeatedly. Patients tend not to have the initiative to start his daily activities. The family admitted that patient also became often angry and felt suspicious for the last 2 years. From the mini mental state examination showed disturbances in time orientation and recall; from Montreal Cognitive Assessment Ina found disturbances in visuospatial, fluency, abstraction, delayed memory, and time orientation; accompanied by activities of daily living (ADL) and instrumental ADL disorders. Patient also performed a molecular examination of the apolipoprotein E (APOE) genotype and the genotype E3/E4 was detected. CONCLUSION: The function of the APOE gene, in particular APOE4, is the most emphasized genetic relationship in late onset Alzheimer’s disease. It is proposed that blocking the action of APOE4 can delay or stop Alzheimer’s disease progression.

Atlantoaxial epidural abscess secondary to grass awn migration in a dog

2014 ◽  
Vol 27 (02) ◽  
pp. 155-158 ◽  
Author(s):  
U. Geissbühler ◽  
P. Karli ◽  
F. Forterre ◽  
E. Linon
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Epidural Abscess ◽  
Cervical Vertebrae ◽  
Clinical Signs ◽  
Resonance Imaging ◽  
Mri Findings ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Grass Awn

SummaryA two-year-old female Lucerne Hound was presented with a one-week history of signs of progressive neck pain, inappetence, apathy, and an elevated rectal temperature. Findings of magnetic resonance imaging (MRI) were consistent with a foreign body abscess in the epidural space at the level of the first and second cervical vertebrae. A leftsided dorso-lateral atlantoaxial approach was performed, revealing an epidural abscess containing a grass awn. The clinical signs resolved within three days of surgery and the dog made a full recovery. This case report shows that grass awns can migrate to the atlantoaxial region in dogs and MRI findings lead to a suspicion of caudo-cranial migration within the spinal canal.

Arthrogryposis Multiplex Congenita Associated with Lissencephaly: A Case Report

1988 ◽  
Vol 19 (01) ◽  
pp. 24-26 ◽  
Author(s):  
G. Massa ◽  
P. Casaer ◽  
B. Ceulemans ◽  
S. Van Eldere
Keyword(s):  
Case Report ◽  
Arthrogryposis Multiplex Congenita
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