Liver Histology in Short Telomere Syndrome: A Case Report and Review of the Literature

2021 ◽  
pp. 106689692110541
Author(s):  
Lixia Bai ◽  
Charles Rohrer ◽  
Yongjun Liu
Keyword(s):  
Liver Disease ◽  
Bone Marrow Failure ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Liver Histology ◽  
Telomere Maintenance ◽  
Short Telomere ◽  
Ductular Reaction ◽  
Elevated Liver Enzymes ◽  
Tract Infections

Short telomere syndrome (STS) encompasses a broad family of genetically inherited conditions caused by various mutations in telomerase and other telomere maintenance genes, resulting in premature telomere shortening. STS involves a variety of clinical manifestations, including dyskeratosis congenita, premature achromotrichia, bone marrow failure, immunodeficiency, pulmonary fibrosis and liver disease. Liver histopathologic features in STS patients have not been well characterized. We report a 46-year-old male patient who presented for dyspnea. The patient had a complicated medical history significant for immune thrombocytopenic purpura and splenectomy, recurrent respiratory tract infections, pneumonia, primary immunodeficiency, and severe hepatopulmonary syndrome. He and his brother both developed gray hair by their late 20s. He had a long history of intermittently elevated liver enzymes starting at age 33. These clinical manifestations prompted an evaluation for a possible telomere biology disorder, which revealed the telomere length was critically short and fell at or below the first percentile for age, supporting the diagnosis. The liver biopsy showed marked portal inflammation with interface hepatitis, ductular reaction and frequent foci of lobular inflammation with focal hepatocyte dropout. Hepatocytes around the portal tracts demonstrated ballooning degeneration and occasional Mallory-Denk bodies. A trichrome stain highlighted bridging fibrosis. A literature review shows liver histology is available in only a small number of STS patients, demonstrating a variety of morphologic features. Our case and others suggest liver disease associated with STS exhibits a spectrum of histopathology. Being aware of these features is important for establishing the correct diagnosis of STS which is under recognized.

scholarly journals Liver histology in short telomere syndrome: A case report and review of the literature

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S125-S125
Author(s):  
L Bai ◽  
Y Liu
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Liver Biopsy ◽  
Clinical Manifestations ◽  
Liver Histology ◽  
Nodular Regenerative Hyperplasia ◽  
Short Telomere ◽  
Hepatocellular Damage ◽  
Elevated Liver Enzymes ◽  
Tract Infections

Abstract Introduction/Objective Short telomere syndrome (STS) is a genetically inherited syndrome resulting in premature telomere shortening. STS encompasses a spectrum of clinical manifestations, including dyskeratosis congenita, premature hair graying, bone marrow failure, immunodeficiency, pulmonary fibrosis and liver disease. Liver histopathologic features in STS patients have not been well characterized. Methods/Case Report A 46-year-old man presented for dyspnea and cryptogenic cirrhosis. He had a complicated medical history significant for immune thrombocytopenic purpura and splenectomy, recurrent respiratory tract infections, pneumonia, sepsis, primary immunodeficiency, pulmonary mucosa-associated lymphoid tissue lymphoma, and severe hepatopulmonary syndrome. He and his brother had gray hair in their late 20s. He also had a long history of intermittently elevated liver enzymes starting at age 33. A liver biopsy performed 12 years before showed chronic portal inflammation with hepatocellular damage without significant fibrosis. These clinical manifestations prompted an evaluation for a possible telomere biology disorder, which revealed the telomere length was critically short and fell at or below the first percentile for age, supportive of the diagnosis. The most recent liver biopsy showed marked portal lymphocytic inflammation with interface hepatitis, bile ductular reaction and frequent foci of lobular inflammation with focal hepatocyte dropout. Some hepatocytes around the portal tracts were swollen with feathery degeneration and occasional Mallory-Denk bodies. A Rhodanine stain highlighted copper granules in the periportal hepatocytes, suggesting chronic cholestasis. Trichrome and reticulin stains demonstrated portal/periportal/pericellular/perisinusoidal fibrosis and focal bridging fibrosis. Results (if a Case Study enter NA) NA Conclusion Partly due to the rarity of STS and the risk of bleeding associated with biopsies, liver histology was described in only few limited studies with small samples of STS patients, including inflammation, nodular regenerative hyperplasia, steatohepatitis, hemosiderosis, cholestasis, cirrhosis, and large cell change of hepatocytes. Our case and others suggest liver disease associated with STS demonstrates a spectrum of histopathology. Being aware of these histomorphologic features in STS is important for establishing the correct diagnosis.

scholarly journals Extrahematopoietic manifestations of the short telomere syndromes

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 115-122
Author(s):  
Kristen E. Schratz
Keyword(s):  
Early Recognition ◽  
Bone Marrow Failure ◽  
Clinical Care ◽  
Organ Transplant ◽  
Clinical Manifestations ◽  
Telomere Maintenance ◽  
Solid Organ ◽  
Short Telomere ◽  
Multiple Systems ◽  
Bone Marrow Failure Syndromes

Abstract The short telomere syndromes encompass a spectrum of clinical manifestations that present from infancy to late adulthood. They are caused by mutations in telomerase and other telomere maintenance genes and have a predominantly degenerative phenotype characterized by organ failure across multiple systems. They are collectively one of the most common inherited bone marrow failure syndromes; however, their most prevalent presentations are extrahematopoietic. This review focuses on these common nonhematologic complications, including pulmonary fibrosis, liver pathology, and immunodeficiency. The short telomere syndrome diagnosis informs clinical care, especially in guiding diagnostic evaluations as well as in the solid organ transplant setting. Early recognition allows an individualized approach to screening and management. This review illustrates a myriad of extrahematopoietic presentations of short telomere syndromes and how they impact clinical decisions.

scholarly journals Diagnostic utility of telomere length measurement in a hospital setting

2017 ◽  
Author(s):  
Jonathan K. Alder ◽  
Vidya Sagar Hanumanthu ◽  
Margaret A. Strong ◽  
Amy E. DeZern ◽  
Susan E. Stanley ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Telomere Length ◽  
Predictive Value ◽  
Bone Marrow Failure ◽  
Hospital Setting ◽  
Treatment Decisions ◽  
Telomere Maintenance ◽  
Short Telomere ◽  
Hematopoietic Stem

AbstractVery short telomere length (TL) provokes cellular senescence in vitro, but the clinical utility of TL measurement in a hospital-based setting has not been determined. We tested the diagnostic and prognostic value of TL measurement by flow cytometry and fluorescence in situ hybridization (flowFISH) in individuals with mutations in telomerase and telomere maintenance genes, and examined prospectively whether TL altered treatment decisions for patients with bone marrow failure. TL had a definable normal range across populations with discrete lower and upper boundaries. TL above the 50th age-adjusted percentile had a 100% negative predictive value for clinically relevant mutations in telomere maintenance genes, but the lower threshold for diagnosis was age-dependent. The extent of deviation from the age-adjusted median correlated with the age at diagnosis of a telomere syndrome as well as the predominant complication. Mild short telomere defects manifested in adults as pulmonary fibrosis-emphysema, while severely short TL manifested in children as bone marrow failure and immunodeficiency. Among 38 newly diagnosed patients with bone marrow failure, TL shorter than the 1st age-adjusted percentile enriched for patients with germline mutations in inherited bone marrow failure genes, such as RUNX1, in addition to telomere maintenance genes. The TL result modified the hematopoietic stem cell donor choice and/or treatment regimen in one-fourth of the cases (9 of 38,24%). TL testing by flowFISH has diagnostic and predictive value in definable clinical settings. In patients with bone marrow failure, it altered treatment decisions for a significant subset.

scholarly journals Elderly patient with atypical leiomyoma of the bladder presenting as flank pain: A case report

2017 ◽  
Vol 89 (4) ◽  
pp. 327
Author(s):  
Mojtaba Ameli ◽  
Mina Rahmandoost
Keyword(s):  
Imaging Techniques ◽  
Correct Diagnosis ◽  
Bladder Wall ◽  
Clinical Manifestations ◽  
Posterior Wall ◽  
Intestinal Wall ◽  
Flank Pain ◽  
Mesenteric Fat ◽  
History Of ◽  
Tract Infections

Atypical leiomyoma is a rare tumor of the bladder whose correct diagnosis with imaging techniques and cystoscopy is difficult. This tumor is prevalent in females and more common in middle age. In the present study we report a rare case of atypical leiomyoma presenting as flank pain and history of recurrent urinary tract infections in an elderly female. Ultrasound (US) showed that the wall of bladder was thickening and irregular, especially in the lower part of the bladder. US revealed hypoechoic solid mass with dimensions of 37 x 26 mm in the posterior bladder wall protruding into the bladder. Computed Tomography scan of the patient showed a mass with dimensions of 29 x 38 mm in the posterior wall of the bladder that infiltrated the mesenteric fat and also seemed to be invading the intestinal wall. According to the general condition and age of our patient, we removed all of the mass under spinal anesthesia by transurethral bladder resection (TURBT). Biopsy results showed atypical leiomyoma. About 6 months after the patient follow-up, no recurrence was observed and symptoms had completely resolved. According to the non-specificity of the imaging, of the age of presentation and of clinical manifestations of atypical leiomyoma differential diagnosis for bladder cancer it is recommended. Only with histopathologic findings, the diagnosis can be confirmed.

scholarly journals Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

Blood ◽  
2007 ◽  
Vol 110 (5) ◽  
pp. 1439-1447 ◽  
Author(s):  
Blanche P. Alter ◽  
Gabriela M. Baerlocher ◽  
Sharon A. Savage ◽  
Stephen J. Chanock ◽  
Babette B. Weksler ◽  
...  
Keyword(s):  
Bone Marrow ◽  
T Cells ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Telomere Length ◽  
Bone Marrow Failure ◽  
Correct Diagnosis ◽  
Dyskeratosis Congenita ◽  
Telomere Maintenance

Abstract Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres. We used multicolor flow fluorescence in situ hybridization analysis of median telomere length in total blood leukocytes, granulocytes, lymphocytes, and several lymphocyte subsets to confirm the diagnosis of DC, distinguish patients with DC from unaffected family members, identify clinically silent DC carriers, and discriminate between patients with DC and those with other bone marrow failure disorders. We defined “very short” telomeres as below the first percentile measured among 400 healthy control subjects over the entire age range. Diagnostic sensitivity and specificity of very short telomeres for DC were more than 90% for total lymphocytes, CD45RA+/CD20− naive T cells, and CD20+ B cells. Granulocyte and total leukocyte assays were not specific; CD45RA− memory T cells and CD57+ NK/NKT were not sensitive. We observed very short telomeres in a clinically normal family member who subsequently developed DC. We propose adding leukocyte subset flow fluorescence in situ hybridization telomere length measurement to the evaluation of patients and families suspected to have DC, because the correct diagnosis will substantially affect patient management.

Clinical manifestations and diagnosis of keratoconus. Treatment of iatrogenic keratoconus

2020 ◽  
pp. 37-42
Author(s):  
Fedor Ermolyuk
Keyword(s):  
Research Methods ◽  
Contact Lenses ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Refractive Errors ◽  
Dry Eyes ◽  
Advanced Stages ◽  
Dystrophic Disease ◽  
Iatrogenic Origin ◽  
Binocular Diplopia

Keratoconus is a dystrophic disease of the cornea, when it is thinned with the formation of a conus-like protrusion (protrusion of the cornea). This disease belongs to the group of keratectasia, it has a multifactorial nature and occurs in approximately 25 % of all corneal pathologies. The disease can be either primary, which is based on dystrophic changes in the cornea, or secondary, which develops against the background of prenatal keratitis. Keratoconus of iatrogenic origin, which develops as a result of refractive eye microsurgery, has become widespread during the last 20 years. Most often primary keratoconus manifests during puberty, progresses to 30–40 years, after which its development slows down. An early clinical manifestation of this corneal pathology is a progressive decrease in visual acuity, development of double vision (binocular diplopia) with the development of a strong headache against this background. Monocular polyopia — images and symbols with multiple contours — develops subsequently. Severe dry eyes, itching, photophobia appear in advanced stages. Diagnosis of keratoconus in some cases can be a significant difficulty, since the use of conventional research methods only allow to suspect refractive errors in the form of myopia or astigmatism. It is necessary to take into account the impossibility of correcting visual impairment using conventional methods — glasses or contact lenses — to make correct diagnosis. As a rule, diagnosis of keratoconus requires use of expanded spectrum of instrumental research methods.

URINARY INFECTION AT DEPARTMENT OF UROLOGY OF HUE UNIVERSITY OF MEDICINE AND PHARMACY HOSPITAL

2018 ◽  
pp. 100-108
Author(s):  
Dinh Khanh Le ◽  
Dinh Dam Le ◽  
Khoa Hung Nguyen ◽  
Xuan My Nguyen ◽  
Minh Nhat Vo ◽  
...  
Keyword(s):  
Urinary Tract Infection ◽  
Urinary Tract ◽  
Tract Infection ◽  
Urinary Tract Infections ◽  
Urine Culture ◽  
Clinical Manifestations ◽  
University Hospital ◽  
E Coli ◽  
Positive Urine ◽  
Tract Infections

Objectives: To investigate clinical characteristics, bacterial characteristics, drug resistance status in patients with urinary tract infections treated at Department of Urology, Hue University Hospital. Materials and Method: The study was conducted in 474 patients with urological disease treated at Department of Urology, Hue Universiry Hospital from July 2017 to April 2018. Urine culture was done in the patients with urine > 25 Leu/ul who have symptoms of urinary tract disease or infection symptoms. Patients with positive urine cultures were analyzed for clinical and bacterial characteristics. Results: 187/474 (39.5%) patients had symptoms associated with urinary tract infections. 85/474 (17.9%) patients were diagnosed with urinary tract infection. The positive urine culture rate was 45.5%. Symptoms of UTI were varied, and no prominent symptoms. E. coli accounts for the highest proportion (46.67%), followed by, Staphycoccus aureus (10.67%), Pseudomonas aeruginsa (8,0%), Streptococcus faecali and Proteus (2.67%). ESBL - producing E. coli was 69.23%, ESBL producing Enterobacter spp was 33.33%. Gram-negative bacteria are susceptible to meropenem, imipenem, amikacin while gram positive are vancomycin-sensitive. Conclusions: Clinical manifestations of urinary tract infections varied and its typical symptoms are unclear. E.coli is a common bacterium (46.67%). Isolated bacteria have a high rate of resistance to some common antibiotics especially the third generation cephalosporins and quinolones. Most bacteria are resistant to multiple antibiotics at the same time. Gram (+) bacteria are susceptible to vancomycin, and gram (-) bacteria are susceptible to cefoxitin, amikacin, and carbapenem. Key words: urinary tract infection

Etiology and clinical features of epididymo-orchitis: A single-center study in Tehran, Iran

2020 ◽  
Vol 20 ◽  
Author(s):  
Sara Abolghasemi ◽  
Mohammad Alizadeh ◽  
Ali Hashemi ◽  
Shabnam Tehrani
Keyword(s):  
Chlamydia Trachomatis ◽  
Clinical Symptoms ◽  
Urine Culture ◽  
Clinical Manifestations ◽  
Urinary Frequency ◽  
Serological Tests ◽  
Duration Of Symptoms ◽  
Two Samples ◽  
History Of ◽  
Tract Infections

Introduction: Epididymo-orchitis is a common urological disease among men. Little is known about the clinical and epidemiological aspects of the disease in Iran. Thus, the present study was aimed to investigate the etiology, clinical sequelae and risk factors of patients with epididymo-orchitis in Tehran, Iran. Materials and Methods: Patients presenting with epididymo-orchitis were prospectively analyzed in order to study the etiology and pattern of the disease. Bacteriological, molecular and serological tests were undertaken to look for Chlamydia trachomatis, Neisseria gonorrhoeae, Brucella spp., Mycoplasma spp, and other bacteria. Results: Fifty patients with epididymo-orchitis were evaluated according to their clinical symptoms, duration of symptoms, physical examination, and laboratory studies. The mean age of the patients was 53 years. Fever, dysuria, pain in the flanks, urinary frequency and discharges occurred in 58.0%, 50.0%, 50.0%, 28.0% and 6.0%, respectively. Bacterial pathogen was identified in 26% (13/50) of patients by urine culture. Escherichia coli was the etiological agent in 11/13 patients (84.6%). Two out of 50 patients (4.0%) were also positive for Chlamydia trachomatis. Two samples were serologically positive for Brucella spp. High Mean age, fever, urinary frequency, history of the underlying disease and history of urinary tract infections were found to have a significant association with the positive bacteriologic urine culture (P<0.05). Conclusions: The most common clinical manifestations were fever, dysuria, and abdominal pain. E. coli and C. trachomatis were the major causative agents. Use of a set of diagnostic approaches including clinical symptoms, urine culture and more precise techniques such as PCR should be taken into consideration for the definitive diagnosis.

Multiple Myeloma or Brucellosis: A Case Report

2020 ◽  
Vol 20 (1) ◽  
pp. 102-105 ◽  
Author(s):  
Hossein A. Rahdar ◽  
Mansoor Kodori ◽  
Mohamad R. Salehi ◽  
Mahsa Doomanlou ◽  
Morteza Karami-Zarandi ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Brucella Melitensis ◽  
Severe Disease ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
Major Health Problem ◽  
Brucella Infection ◽  
Wide Range ◽  
Parental Treatment

Background: Brucellosis, a major health problem in developing countries, is a multisystem infection with a broad spectrum of clinical manifestations. Hematological complications, ranging from an intravascular coagulopathy to mild homeostasis disorders (such as gammopathy), have been reported in brucella infection. These signs and symptoms may lead to misdiagnosis of brucellosis with other hematological diseases. Case: A 65-year-old male whose occupation was shepherding was referred to our hospital as a known case of multiple myeloma with continuous fever, muscle weakness, and night sweating after taking 2 courses of chemotherapy. The laboratory diagnosis of multiple myeloma had been based on the observation of a high percent of plasma cells in the bone marrow aspiration. At follow- up, the result of patient's fever workup, with 2 sets of blood cultures, was positive for Brucella melitensis. Isolated brucella was confirmed as B. melitensis by 16S rRNA sequencing. Brucellosis serologic test was performed by agglutination test and positive results were obtained. The patient was discharged with the cessation of fever and general improvement after the end of the parental treatment phase of brucella bacteremia. Conclusions: Brucella infection may cause a severe disease, mimicking a primary hematological disease, which could complicate the correct diagnosis. In brucellosis cases, due to the wide range of symptoms, in addition to cultivation and serological methods, molecular methods should also be used to prevent inappropriate diagnosis and additional costs.

Respiratory tract damage with bocavirus infection in children

2020 ◽  
Vol 19 (2) ◽  
pp. 14-18
Author(s):  
E. V. Sharipova ◽  
I. V. Babachenko ◽  
M. A. Shcherbatyh
Keyword(s):  
Respiratory Tract ◽  
Lower Respiratory Tract ◽  
Clinical Manifestations ◽  
Respiratory Viruses ◽  
Community Acquired Pneumonia ◽  
Human Bocavirus ◽  
Long Time ◽  
Clinically Significant ◽  
Tract Infections ◽  
Tract Damage

Long time the main pathogens associated with the development of community-acquired pneumonia were bacteria. However, in recent years in the Russian Federation, like all over the world, the view of the damage of lower respiratory tract changed, including a unique approach to community-acquired pneumonia as a bacterial infection, and respiratory viruses have become seen as a direct cause of lower respiratory tract damage, or as part of a viral-bacterial co-infection. These studies became possible since the widespread introduction of PCR techniques in the clinical setting, identification of respiratory viruses has increased and new microorganisms such, one as human bocavirus have been discovered. Objective: to study the features of respiratory tract damage in acute bocavirus infection in children of different ages. Materials and methods: A retrospective analysis of 97 medical hospital documentation of children with acute bocavirus infection, detected confirmed by PCR in nasopharyngeal aspirate. Results: In this work, it was shown that human bocavirus spread throughout the year with an increase in the incidence of clinically significant forms in the autumnwinter period, including during the period of an increase in the incidence of influenza. HBoV infection requiring hospitals is most significant in the first three years of life. In 74.2% of hospitalized children, bocavirus infection occurs with lower respiratory tract infections in the form of bronchitis — 77.8%, pneumonia — 28.9% and rarely bronchiolitis and is complicated by the development of respiratory failure in 28.9% of cases. Changes in the blood test are non-specific, and the level of C-reactive protein in children with various clinical manifestations of HBoV infection generally does not exceed 50 mg / l. An x-ray of the chest organs does not objectively reflect the existing volume and nature of the inflammatory process in the lungs.

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