Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

2019 ◽  
Vol 19 (5-6) ◽  
pp. 218-224
Author(s):  
Gulshan Yunisova ◽  
Zeynep Tufekcioglu ◽  
Okan Dogu ◽  
Başar Bilgic ◽  
Hakan Kaleagasi ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Delayed Diagnosis ◽  
Clinical Signs ◽  
Gastrointestinal Symptoms ◽  
Case Series ◽  
Febrile Convulsion ◽  
Cerebrotendinous Xanthomatosis ◽  
Extrapyramidal Signs ◽  
Lipid Storage Disorder

Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. Methods: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University. Results: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3–60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients. Conclusion: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration.

scholarly journals Long-Term Follow-Up of Denosumab Discontinuers with Multiple Vertebral Fractures in the Real-World: A Case Series

2021 ◽  
Author(s):  
Liana Tripto-Shkolnik ◽  
Yair Liel ◽  
Naama Yekutiel ◽  
Inbal Goldshtein
Keyword(s):  
Real World ◽  
Vertebral Fractures ◽  
Clinical Laboratory ◽  
Case Series ◽  
High Risk Group ◽  
Imaging Data ◽  
Long Term Follow Up ◽  
Multiple Vertebral Fractures

AbstractDenosumab discontinuation is associated with rapid reversal of bone turnover suppression and with a considerable increase in fracture risk, including a risk for multiple vertebral fractures (MVF). Long-term follow-up of patients who sustained MVF after denosumab discontinuation has not been reported. This case-series was aimed to provide a long-term follow-up on the management and outcome of denosumab discontinuers who initially presented with multiple vertebral fractures. Denosumab discontinuers were identified from a computerized database of a large healthcare provider. Baseline and follow-up clinical, laboratory, and imaging data were obtained from the computerized database and electronic medical records. The post-denosumab discontinuers MVF patients consisted of 12 women aged 71±12. Osteoporotic fractures were prevalent before denosumab discontinuation in 6 of the patients. The majority received bisphosphonates before denosumab. MVF occurred 134±76 days after denosumab discontinuation. The patients were followed for a median of 36.5 (IQR 28.2, 42.5) months after MVF. Two patients passed-away. Two patients suffered recurrent vertebral fractures. Following MVF, patients were treated inconsistently with denosumab, teriparatide, oral, and intravenous bisphosphonates, in various sequences. Two patients underwent vertebroplasty/kyphoplasty. This long-term follow-up of real-world patients with MVF following denosumab discontinuation reveals that management is inconsistent, and recurrent fractures are not uncommon. It calls for clear management guidelines for patients with MVF after denosumab discontinuation and for special attention to this high-risk group.

scholarly journals Feline and Canine Cutaneous Lymphocytosis: Reactive Process or Indolent Neoplastic Disease?

2022 ◽  
Vol 9 (1) ◽  
pp. 26
Author(s):  
Francesco Albanese ◽  
Francesca Abramo ◽  
Michele Marino ◽  
Maria Massaro ◽  
Laura Marconato ◽  
...  
Keyword(s):  
Median Overall Survival ◽  
Clinical Signs ◽  
Case Series ◽  
Response To Treatment ◽  
Neoplastic Disease ◽  
Retrospective Case ◽  
Term Survival ◽  
Dermal Infiltrate

Cutaneous lymphocytosis (CL) is an uncommon and controversial lymphoproliferative disorder described in dogs and cats. CL is generally characterized by a heterogeneous clinical presentation and histological features that may overlap with epitheliotropic lymphoma. Therefore, its neoplastic or reactive nature is still debated. Here, we describe clinicopathological, immunohistochemical, and clonality features of a retrospective case series of 19 cats and 10 dogs with lesions histologically compatible with CL. In both species, alopecia, erythema, and scales were the most frequent clinical signs. Histologically, a dermal infiltrate of small to medium-sized lymphocytes, occasionally extending to the subcutis, was always identified. Conversely, when present, epitheliotropism was generally mild. In cats, the infiltrate was consistently CD3+; in dogs, a mixture of CD3+ and CD20+ lymphocytes was observed only in 4 cases. The infiltrate was polyclonal in all cats, while BCR and TCR clonal rearrangements were identified in dogs. Overall, cats had a long-term survival (median overall survival = 1080 days) regardless of the treatment received, while dogs showed a shorter and variable clinical course, with no evident associations with clinicopathological features. In conclusion, our results support a reactive nature of the disease in cats, associated with prolonged survival; despite a similar histological picture, canine CL is associated with a more heterogeneous lymphocytic infiltrate, clonality results, and response to treatment, implying a more challenging discrimination between CL and CEL in this species. A complete diagnostic workup and detailed follow-up information on a higher number of cases is warrant for dogs.

scholarly journals Clinical characteristics of COVID-19 in children compared with adults in Shandong, China

2020 ◽  
Author(s):  
Wenjun Du ◽  
Jinhong Yu ◽  
Hui Wang ◽  
Xiaoguo Zhang ◽  
Shouwei Zhang ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Health Workers ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Case Series ◽  
Signs And Symptoms ◽  
Asymptomatic Patients ◽  
Positive Indicators ◽  
Clinical Signs And Symptoms

Abstract Aims & Background: The COVID-19 outbreak spread in China and is a threat to the world. We reported on the epidemiological, clinical, laboratory, and radiological characteristics of children cases to help health workers better understand and provide timely diagnosis and treatment.Methods: Retrospectively, two research centers’ case series of 67 consecutive hospitalized cases including 14 children cases with COVID-19 between 23 Jan 2020 to 15 Feb 2020 from Jinan and Rizhao were enrolled in this study. Epidemiological, clinical, laboratory, and radiological characteristics of children and adults were analyzed and compared.Results: Most cases in children were mild(21.4%) and conventional cases(78.6%), with mild clinical signs and symptoms, and all cases were of family clusters. Fever (35.7%) and dry cough(21.4%) were described as clinical manifestations in children cases. Dry cough and phlegm were not the most common symptoms in children compared with adults(p=0.03). In the early stages of the disease, lymphocyte counts did not significantly decline but neutrophils counts did in children compared with adults(p=0.00).There was an elevated level of LDH(p=0.01) and a lower level of CRP(p=0.00)and IL-6(p=0.01) in children compared with adults. There were 8 (57.1%)asymptomatic cases and 6 (42.9%)symptomatic cases among the 14 children cases. The age of asymptomatic patients was younger than that of symptomatic patients(p=0.03). Even among asymptomatic patients, 5(62.5%)cases had pneumonia including 3 (60%) cases with bilateral pneumonia, which was not different compared with that of asymptomatic cases(p=0.58, p=0.74).Conclusions: The clinical symptoms of children are mild, and the positive indicators of laboratory tests are rare, which may easily cause clinical misdiagnoses.

Evaluation of Unilateral Arytenoid Lateralization for the Treatment of Laryngeal Paralysis in 14 Cats

2010 ◽  
Vol 46 (6) ◽  
pp. 418-424 ◽  
Author(s):  
Brian Thunberg ◽  
Gary C. Lantz
Keyword(s):  
Postoperative Complications ◽  
Airway Obstruction ◽  
Median Duration ◽  
Clinical Signs ◽  
Case Series ◽  
Upper Airway ◽  
Common Cause ◽  
Laryngeal Paralysis

Laryngeal paralysis is a relatively common cause of upper airway obstruction in middle-aged to older, large-breed dogs; however, it is rare in the cat. The purpose of this study is to describe a series of cats diagnosed with laryngeal paralysis treated by unilateral arytenoid lateralization. Fourteen cats met the criteria of the study. Intraoperative and postoperative complications were seen in 21% (three of 14) and 50% (seven of 14) of cases, respectively. Median duration of follow-up was 11 months (range 3 weeks to 8 years). None of these cats had recurrence of clinical signs. Based on this brief case series, unilateral arytenoid lateralization appeared to be a suitable method for treating laryngeal paralysis in cats. Additional studies are warranted to determine the type and frequency of long-term complications.

scholarly journals Feline primary erythrocytosis: a multicentre case series of 18 cats

2018 ◽  
Vol 20 (12) ◽  
pp. 1192-1198 ◽  
Author(s):  
Hannah Darcy ◽  
Katherine Simpson ◽  
Isuru Gajanayake ◽  
Mayank Seth ◽  
Yvonne McGrotty ◽  
...  
Keyword(s):  
Total Protein ◽  
Protein Concentration ◽  
Clinical Signs ◽  
Case Series ◽  
Survival Times ◽  
Total Protein Concentration ◽  
Post Discharge ◽  
Haematological Changes ◽  
Rule Out

Case series summary A retrospective multicentre case series of feline primary erythrocytosis (PE) was evaluated. The aim was to gain better understanding of disease presentation and progression to guide management and prognostication. Case records were assessed for evidence of increased packed cell volume (PCV; >48%), sufficient investigation to rule out relative and secondary erythrocytosis, and follow-up data for at least 12 months or until death. Eighteen cats were included in the case series. No significant trends in signalment were noted. Seizures and mentation changes were the most common presenting signs (both n = 10). Median PCV was 70% (median total protein concentration of 76 g/l) with no other consistent haematological changes. Sixteen cats survived to discharge. Phlebotomy was performed initially in 15/16 surviving animals and performed after discharge in 10/16. Hydroxyurea was the most common adjunctive therapy, used in 10/16 cats. Of the 16 patients surviving to discharge, 14 patients were still alive at the conclusion of the study (survival time >17 months post-discharge), with the two non-survivors having lived for 5 years or more after diagnosis. PCV, when stabilised, did not correlate with resolution of clinical signs. Relevance and novel information In contrast to perceptions, feline PE was generally well managed via a combination of phlebotomy and medical therapy, with evidence of prolonged survival times. The use of hydroxyurea enabled cessation or repeat phlebotomies.

Arthroscopic treatment of fragmented coronoid process with severe elbow incongruity

2013 ◽  
Vol 26 (01) ◽  
pp. 27-33 ◽  
Author(s):  
E. de Bakker ◽  
D. Van Vynckt ◽  
E. Coppieters ◽  
H. van Bree ◽  
B. Van Ryssen ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Case Series ◽  
Term Treatment ◽  
Coronoid Process ◽  
Heavy Exercise ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Long Term Treatment

SummaryThe purpose of this study was to investigate the long-term treatment results of fragmented coronoid process (FCP) in joints with a radio-ulnar step greater than 3 mm. Treatment of these patients only consisted of fragment removal, without correction of the incongruity.The eight Bernese Mountain Dogs (11 joints) included in this study showed obvious clinical signs of elbow disease and were diagnosed with severe elbow incongruity and concomitant FCP in the time period from 1999–2003. At that time, elbow radiography, computed tomography, and arthroscopy were performed. The mean follow-up period was 5.6 years. The follow-up consisted of a telephone questionnaire combined with a clinical and radiographic re-evaluation at our clinic.The questionnaire revealed that all dogs were either free of lameness or only lame following heavy exercise. One dog sporadically required medication after heavy exercise. The owner satisfaction rate was 100%. The clinical re-evaluation did not reveal any signs of pain or lameness in all cases. Range-of- motion was decreased in nine of the 11 elbows. Radiographs revealed an increase in severity of osteoarthritis in every case.In this case series, arthroscopic fragment removal without treatment of incongruity was demonstrated to be a valuable treatment option and may provide a satisfactory long-term outcome.

scholarly journals Pediatric Ulcerative Colitis in Kazakhstan: First Case Series from Central Asia and Current Clinical Management

2020 ◽  
Vol 11 (2) ◽  
pp. 27-35
Author(s):  
Dimitri Poddighe ◽  
Aigerim Telman ◽  
Ernas Tuleutayev ◽  
Aigul Ibrayeva
Keyword(s):  
Ulcerative Colitis ◽  
Central Asia ◽  
Clinical Studies ◽  
Clinical Management ◽  
Pediatric Patients ◽  
Clinical Laboratory ◽  
Case Series ◽  
Developed Countries ◽  
One Year

The diagnoses of ulcerative colitis have increased in pediatric patients in the last two decades. Whereas there are several reports from most areas of the world, no clinical studies describing the clinical management of pediatric ulcerative colitis are currently available from Central Asia. In this article, we first describe a case series of pediatric patients affected with ulcerative colitis in Kazakhstan. This is a retrospective study including 25 consecutive pediatric patients diagnosed with ulcerative colitis in a tertiary pediatric hospital. The available demographic, clinical, hematological and inflammatory parameters at diagnosis and at the first one-year follow-up have been provided and analyzed. Most pediatric patients diagnosed with ulcerative colitis were older than 12 years, with prevalence of male gender. The analysis of clinical, laboratory, endoscopic parameters at the diagnosis suggested a significant diagnostic delay compared to developed countries; however, most of them showed clinical, laboratory and endoscopic improvements at the one-year follow-up. Even though the therapeutic approach and outcomes resulted to be consistent with other clinical studies from developed countries, several aspects of the medical follow-up should be improved, especially in pediatric patients with extensive disease.

Sonographic Features of TOA With Highly Elevated CA-125: A Case Series

2021 ◽  
pp. 875647932110057
Author(s):  
Priya R. Patel ◽  
Elizabeth Crabtree-Burton
Keyword(s):  
Delayed Diagnosis ◽  
Clinical Signs ◽  
Case Series ◽  
Reproductive Organs ◽  
Ca 125 ◽  
Diagnostic Tools ◽  
Inclusion Criteria ◽  
Ovarian Abscess ◽  
Prompt Diagnosis

Given the significant morbidity and mortality associated with tubo-ovarian abscess (TOA), prompt diagnosis and initiation of treatment is critical. If a diagnosis is made early, medical management remains an option thereby improving the chance of conservation of reproductive organs. TOA is a sequalae of pelvic inflammatory disease (PID) and the diagnosis remains difficult due to the wide inclusion criteria for this condition, which should exclude other causes of pelvic pain. This case study presents two atypical cases of TOA in which neither patient met the diagnostic criteria for PID, on initial presentation and delayed diagnosis. Sonographic findings of enlarging, complex hyper-vascular masses and markedly elevated CA-125 levels instead raised concerns for malignancy influencing management decisions. In retrospect, utilizing these two predictive diagnostic tools may facilitate an earlier diagnosis of TOA therefore even without overt PID. This becomes more important when the clinical signs support a potential diagnosis of malignancy.

scholarly journals Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

2015 ◽  
Vol 4 (1) ◽  
pp. 49
Author(s):  
Erica deAvila ◽  
Rafael deMolon ◽  
Mario Gabrielli ◽  
Eduardo HochuliVieira ◽  
Marisa Gabrielli
Keyword(s):  
Case Report ◽  
Delayed Diagnosis ◽  
Clinical Signs ◽  
Gorlin Syndrome

scholarly journals An evaluation of the use of ronidazole for the treatment of Tritrichomonas foetus in cats

2019 ◽  
Vol 4 (4) ◽  
Author(s):  
Genever Bethan Morgan
Keyword(s):  
Dose Range ◽  
Clinical Signs ◽  
Case Series ◽  
Small Sample ◽  
Tritrichomonas Foetus ◽  
Bottom Line ◽  
Successful Resolution ◽  
Small Sample Sizes ◽  
Randomised Controlled

PICO question In cats infected with Tritrichomonas foetus, does treatment with oral ronidazole compared to an alternative antiprotozoal treatment or placebo result in successful resolution of clinical signs and eradication of disease? Clinical bottom line Ronidazole use appears to be efficacious in eradicating infection with Tritrichomonas foetus and resolving diarrhoea associated with infection. A dose range of 30–50 mg/kg 12–24 hourly has been suggested, with evidence suggesting that a dose of 30 mg/kg 24 hourly for 14 days may be effective. However, some cats may require higher doses and some may not respond to treatment, and relapse may occur during a protracted period following completion of the treatment course. Neurological side effects appear to be uncommon but may occur with doses of 30 mg/kg and above. A total of six studies are reviewed: Three randomised, controlled studies, one cohort study and two case series (one retrospective). Findings indicate efficacy of ronidazole treatment in eradicating infection and resolving diarrhoea, however many studies involved small sample sizes and limited follow-up. Therefore, evidence to support the use of ronidazole in Tritrichomonas foetus infected cats remains relatively limited.  

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