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Clin Lab 2019 Jan;65(1)

Background: Renal involvement is rare in B lymphoblastic lymphoma (B-LBL). The authors describe a rare case of renal involvement in a 21-year-old male patient with B lymphoblastic lymphoma leukemia, presenting with severe lactic acidosis.

Methods: Hematologic investigation, bone marrow aspirate and biopsy, cytogenetic analysis and renal biopsy were performed. Read More

J Ethnopharmacol 2019 Feb 14. Epub 2019 Feb 14.

Department of Pharmaceutics, Shanghai Eighth People's Hospital, Jiangsu University, Shanghai 200235, China. Electronic address:

Ethnopharmacological Relevance: Studies have shown that the etiology and pathogenesis of colorectal cancer are closely related to the tumor microenvironment, and the cancer tissue is still in the state of "energy deficit" and has to promote energy generation through high glycolysis. Rhus chinensis Mill is a Chinese herbal medicine used to treat various types of solid tumors in China. Colorectal cancer (CRC) is a heterogeneous disease group caused by abnormal changes in glucose metabolism resulted in lactic acid production, which remodels acidosis. Read More

Gene 2019 Feb 13. Epub 2019 Feb 13.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.

Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Read More

Nephrol Dial Transplant 2019 Feb 14. Epub 2019 Feb 14.

Department of Medicine D, Rambam Health Care Campus and Ruth & Bruce Rappaport Faculty of Medicine, Technion-IIT, Haifa, Israel.

Concepts regarding hypoxic acute kidney injury (AKI) are derived from widely used warm ischemia-reflow (WIR) models, characterized by extensive proximal tubular injury and associated with profound inflammation. However, there is ample clinical and experimental data indicating that hypoxic AKI may develop without total cessation of renal blood flow, with a different injury pattern that principally affects medullary thick limbs in the outer medulla. This injury pattern likely reflects an imbalance between blood and oxygen supply and oxygen expenditure, principally for tubular transport. Read More

Front Neurol 2019 31;10:38. Epub 2019 Jan 31.

Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m. 3243A>G mutation in the MT-TL1 mitochondrial DNA gene, resulting in impairment of mitochondrial energy metabolism. Although childhood is the typical age of onset, a small fraction (1-6%) of individuals manifest the disease after 40 years of age and usually have a less aggressive disease course. Read More

Eur J Case Rep Intern Med 2018 24;5(10):000949. Epub 2018 Oct 24.

Internal Medicine Department, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.

Metabolic acidosis is a common clinical disturbance due to increased plasma acidity caused by a primary decrease in serum HCO3- concentration. It is classified as normal or high anion gap metabolic acidosis. High anion gap metabolic acidosis can result from either a decrease in unmeasured cations (K, Ca2, Mg2) or an increase in unmeasured anions (PO, albumin). Read More

Diabetes 2019 Feb 12. Epub 2019 Feb 12.

Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, SE-171 77 Stockholm, Sweden

Thioredoxin Interacting Protein (TXNIP) is an alpha arrestin that can bind to and inhibit the antioxidant protein thioredoxin (TXN). TXNIP expression is induced by glucose, promotes ß-cell apoptosis in the pancreas and deletion of its gene in mouse models protects against diabetes. TXNIP is currently studied as a potential new target for antidiabetic drug therapy. Read More

Otol Neurotol 2019 Mar;40(3):359-364

Department of Otolaryngology, Faculty of Medicine, University of Tokyo.

Objective: To evaluate the progression of peripheral vestibular dysfunction in patients with an A-to-G point mutation at nucleotide pair 3243 in mitochondrial DNA (A3243G mutation).

Study Design: Retrospective patient series.

Setting: Tertiary referral center. Read More

Brain Dev 2019 Feb 7. Epub 2019 Feb 7.

Department of Pediatrics, Jichi Medical University, Japan. Electronic address:

Mutations in the mitochondrial tRNA gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudden visual disturbances and headaches accompanied by recurrent, stroke-like episodes with lactic acidosis (pH 7. Read More

Mitochondrion 2019 Feb 7. Epub 2019 Feb 7.

Department of Clinical Laboratory, Tokyo Metropolitan Geriatric Hospital, Itabashi-ku, Japan.

Biomarkers and two clinical rating scales-the Japanese mitochondrial disease-rating scale (JMDRS) and Newcastle mitochondrial disease adult scale (NMDAS)-are clinically used when treating patients with mitochondrial disease. We explored the biomarker(s) and clinical rating scale(s) that are appropriate in preparing the protocol for a future clinical trial of sodium pyruvate (SP) therapy. A 48-week, prospective, single-centre, exploratory, clinical study enrolled 11 Japanese adult patients with genetically, biochemically, and clinically confirmed mitochondrial disease; they had intractable lactic acidosis and received SP (0. Read More

J Genet Eng Biotechnol 2018 Dec 1;16(2):769-775. Epub 2018 Feb 1.

Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka 1000, Bangladesh.

Metformin is one of the first-line and most widely prescribed drugs to treat type 2 diabetes (T2D). Its clearance from circulation is mostly facilitated by SLC22A2 (OCT2) in the renal cells. SLC22A2 is a polyspecific organic cation transporter and mediate transport of structurally unrelated endogenous and exogenous compounds including many drugs. Read More

Mol Genet Metab Rep 2019 Mar 18;18:32-38. Epub 2019 Jan 18.

University of British Columbia, Head Division of Biochemical Genetics, BC Children's Hospital, Room K3-205, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.

Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I deficiency caused by autosomal recessive mutations in Here, we report the fifth patient with related complex 1 deficiency presenting with prenatal onset of bilateral periventricular cysts, congenital lactic acidosis, and persistent life-limiting pulmonary hypertension. Read More

Front Physiol 2018 18;9:1941. Epub 2019 Jan 18.

School of Biological Sciences, The University of Auckland, Auckland, New Zealand.

The vertebrate brain is generally very sensitive to acidosis, so a hypoxia-induced decrease in pH is likely to have an effect on brain mitochondria (). Mitochondrial respiration (JO) is required to generate an electrical gradient (ΔΨm) and a pH gradient to power ATP synthesis, yet the impact of pH modulation on brain function remains largely unexplored. As intertidal fishes within rock pools routinely experience hypoxia and reoxygenation, they would most likely experience changes in cellular pH. Read More

Mol Genet Metab 2019 Jan 25. Epub 2019 Jan 25.

Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address:

In this study, we report the metabolic consequences of the m.1630 A > G variant in fibroblasts from the symptomatic proband affected with the mitochondrial encephalomyopathy lactic acidosis and stroke-like episode Syndrome and her asymptomatic mother. By long-range PCR followed by massively parallel sequencing of the mitochondrial genome, we accurately measured heteroplasmy in fibroblasts from the proband (89. Read More

Biochim Biophys Acta Rev Cancer 2019 Jan 30;1871(2):273-280. Epub 2019 Jan 30.

Dept. of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma 00161, Italy. Electronic address:

While cancer is commonly described as "a disease of the genes", it is also a disease of metabolism. Indeed, carcinogenesis and malignancy are highly associated with metabolic re-programming, and there is clinical evidence that interrupting a cancer's metabolic program can improve patients' outcomes. Notably, many of the metabolic adaptations observed in cancer are similar to the same perturbations observed in diabetic patients. Read More

Chin Med J (Engl) 2019 Jan 29. Epub 2019 Jan 29.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases Center of Stroke, Beijing Institute for Brain Disorders Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease.

Dtsch Med Wochenschr 2019 Feb 31;144(3):171-174. Epub 2019 Jan 31.

Acute kidney injury (AKI) can be considered as an inflammatory systemic disorder affecting virtually every organ. It has great impact on morbidity and mortality of critically ill patients.

Diagnostic:  The use of electronic alerts for detection of AKI combined with the use of standardized kidney care bundles can improve patient outcomes. Read More

J Inherit Metab Dis 2018 Dec 27. Epub 2018 Dec 27.

Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a type of mitochondrial disorder and stroke-like lesions are observed prominently in the brain magnetic resonance imaging. Those stroke-like lesions of MELAS patients are usually located in the posterior quadrants and do not correspond to typical vascular territories. This case illustrates that focal cerebellar infarction can be the sole initial sign of MELAS. Read More

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Pediatric Department, Latifa Hospital, Dubai Health Authority, P.O.Box 4115, Dubai, United Arab Emirates.

Pontocerebellar Hypoplasia type 1 is a rare heterogeneous neurodegenerative disorder with multiple subtypes linked to dysfunction of the exosome complex. Patients with mutations in exosome subunits exhibit a generally lethal phenotype characterized by cerebellar and pontine hypoplasia in association with spinal motor neuropathy and multiple systemic and neurologic features. Recently, two variants in the novel PCH1 associated protein EXOSC9 p. Read More

Chin Med J (Engl) 2019 Feb;132(3):269-274

Department of Neurology, Peking University First Hospital, Beijing 100034, China.

Background: Studies on the relationship between antiepileptic drug (AED) administration and clinical outcomes in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) remain scarce. Levetiracetam (LEV) is an AED that is neuroprotective in various neurologic disorders. This study aimed to determine the impact of LEV on the outcome of MELAS. Read More

Diabetes Obes Metab 2019 Jan 22. Epub 2019 Jan 22.

Cardiovascular Division, Department of Medicine, Brigham & Women's Hospital, Boston, MA.

Aims: Metformin could have benefits on cardiovascular disease and kidney disease progression but is often withheld from individuals with diabetes and chronic kidney disease (CKD) out of concern that it may increase the risk of lactic acidosis.

Materials And Methods: All-cause mortality, cardiovascular death, cardiovascular events (death, heart failure hospitalization, myocardial infarction, stroke, or myocardial ischemia), end stage renal disease (ESRD), and the kidney disease composite (ESRD or death) were compared in metformin users and non-users with diabetes and CKD enrolled in the Trial to Reduce Cardiovascular Events with Aranesp (darbepoeitin-alfa) Therapy (TREAT, NCT00093015). Outcomes were compared after propensity matching users and non-users and in multivariable proportional hazards models. Read More

Am J Ther 2019 Jan 16. Epub 2019 Jan 16.

Department of Medicine, SUNY Upstate Medical University, Syracuse, NY.

J Diabetes Investig 2019 Jan 18. Epub 2019 Jan 18.

Center for Diabetes and Endocrinology, The Tazuke Kofukai Medical Research Institute Kitano Hospital, Osaka, Japan.

A patient with mitochondrial diabetes mellitus developed diabetic ketoacidosis. During insulin treatment, although diabetic ketoacidosis improved, lactic acidosis unexpectedly worsened. This clinical course, named "switched metabolic acidosis," could reflect the unique pathophysiology of the mitochondrial disorder. Read More

J Hum Genet 2019 Jan 18. Epub 2019 Jan 18.

United Diagnostic and Research Center for Clinical Genetics, School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital, Xiamen, Fujian, 361003, China.

COQ4 mutations have recently been shown to cause a broad spectrum of mitochondrial disorders in association with CoQ10 deficiency. Herein, we report the clinical phenotype, in silico and biochemical analyses, and intervention for a novel c.370 G > A (p. Read More

Cells 2019 Jan 17;8(1). Epub 2019 Jan 17.

Department of Neurosurgery, Mackay Memorial Hospital, Taipei 10449, Taiwan.

Dysfunction of mitochondria causes defects in oxidative phosphorylation system (OXPHOS) and increased production of reactive oxygen species (ROS) triggering the activation of the cell death pathway that underlies the pathogenesis of aging and various diseases. The process of autophagy to degrade damaged cytoplasmic components as well as dysfunctional mitochondria is essential for ensuring cell survival. We analyzed the role of autophagy inpatient-specific induced pluripotent stem (iPS) cells generated from fibroblasts of patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with well-characterized mitochondrial DNA mutations and distinct OXPHOS defects. Read More

Clin Case Rep 2019 Jan 12;7(1):64-70. Epub 2018 Nov 12.

Department of Anesthesiology, Division of Emergencies and Critical Care Oslo University Hospital Oslo Norway.

Though rare in cervical cancer patients, paraneoplastic syndrome usually presents with several endocrine and hormonal symptoms. Knowledge of the pathophysiology that underlies these abnormalities is beneficial to diagnosis and treatment. An interdisciplinary approach and test analysis prior to initiating specific treatment is recommended, though prognosis appears poor in advanced cases. Read More

Nervenarzt 2019 Feb;90(2):121-130

Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, Klinikum der Universität München, Ziemssenstr. 1, 80336, München, Deutschland.

Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Read More

Diabetes Metab Syndr 2019 Jan - Feb;13(1):648-650. Epub 2018 Nov 13.

Dhanwantari Hospital, Mumbai, India. Electronic address:

We present here a case of hypoglycemia and lactic acidosis in an elderly diabetic lady with underlying leukemia∖lymphoma. Possible mechanisms responsible for both hypoglycemia as well as lactic acidosis are discussed. The case emphasizes the need for thorough chasing of all clinical leads obtained from history taking, physical examination, as well as laboratory evaluation in order to avoid getting misled by apparently obvious diagnosis. Read More

Eur J Pharmacol 2019 Mar 11;846:23-29. Epub 2019 Jan 11.

Center for Pharmacy and Experimental Therapeutics, University of Georgia College of Pharmacy, Augusta, GA, USA; Charlie Norwood VA Medical Center, Augusta, Georgia, USA; Vascular Biology Center, Department of Pharmacology and Toxicology, Augusta University, Augusta, GA, USA; Department of Medicine, Pennsylvania State University College of Medicine, Hershey, PA, USA. Electronic address:

The prevalence of type 2 diabetes mellitus (T2D) has risen in the United States and worldwide, with an increase in global prevalence from 4.7% to 8.5% between 1980 and 2014. Read More

Int J Eat Disord 2019 Jan 10. Epub 2019 Jan 10.

Department of Medicine, ACUTE, Denver Health, Denver, Colorado.

Objective: To report a case of severe multisystem illness, near death and permanent kidney failure in a woman with a history of anorexia nervosa-binge purge type due to abuse of prescription metformin, an approved oral diabetes medication obtained surreptitiously via the internet.

Method: Psychiatric and medical records were reviewed from the medical care of this patient. A literature search was also performed on prescription medication abuse as a mode of purging. Read More

Mol Genet Genomic Med 2019 Jan 8:e541. Epub 2019 Jan 8.

Department of Neurology, Peking University People's Hospital, Beijing, China.

Background: Heteroplasmic mitochondrial 3697G>A mutation has been associated with leber hereditary optic neuropathy (LHON), mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and LHON/MELAS overlap syndrome. However, homoplasmic m.3697G>A mutation was only found in a family with Leigh syndrome, and the phenotype and pathogenicity of this homoplasmic mutation still need to be investigated in new patients. Read More

Ugeskr Laeger 2018 Dec;180(51)

Danish national guidelines recommend discontinuation of metformin 48 h prior to general anaesthesia due to the presumed increased risk of lactic acidosis. By reviewing recent studies concerning the risk of metformin-associated lactic acidosis it is found, that studies indicate, that metformin does not increase the risk of lactic acidosis. However, comorbidities such as cardiovascular insufficiency, sepsis, dehydration and impaired kidney function are risk factors. Read More

Am J Infect Control 2019 Jan 4. Epub 2019 Jan 4.

Section of Infectious Diseases, Wake Forest School of Medicine, Winston-Salem, NC.

Background: Methicillin-resistant Staphylococcus aureus (MRSA) is frequently implicated in health care-associated outbreaks in burn intensive care units, incurring substantial morbidity and mortality to these high-risk patients and excess costs to health care systems.

Methods: MRSA health care-associated infections (HAIs) were noted before and after the implementation of basic infection prevention measures and the subsequent implementation of universal decolonization with intranasal mupirocin. Pulsed-field gel electrophoresis was used to determine the relatedness of clinical isolates. Read More

BMJ Case Rep 2019 Jan 3;12(1). Epub 2019 Jan 3.

Department of Internal Medicine, Singapore General Hospital, Singapore.

A 56-year-old teetotaller man with hypertension and gout presented with a week duration of painless worsening diplopia on a background of loss of weight and appetite, generalised lethargy and weakness for 1 year. On examination, he was noted to be hypothermic and tachycardic with generalised muscle wasting. Proximal myopathy, lower limb fasciculations and areflexia, restricted bilateral eye abduction and nystagmus were observed. Read More

Clin Transplant 2018 Dec 29:e13473. Epub 2018 Dec 29.

Department of Anesthesiology, Perioperative and Pain Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.

During liver transplantation, the patient is at risk of developing progressive lactic acidosis. Following reperfusion, correction of acidosis may occur. In some patients, acidosis will worsen, a phenomenon referred to as persistent acidosis after reperfusion (PAAR). Read More

BMJ Case Rep 2018 Dec 27;11(1). Epub 2018 Dec 27.

Internal Medicine, John H Stroger Hospital of Cook County, Chicago, Illinois, USA.

Thiamine is an important coenzyme, which is essential for metabolism and maintaining cellular osmotic gradient. Thiamine deficiency can cause focal lactic acidosis, alteration of the blood-brain barrier and the production of free radicals through cell death by necrosis and apoptosis. Wernicke encephalopathy (WE) is a clinical diagnosis. Read More

Med Hypotheses 2019 Jan 22;122:206-209. Epub 2018 Nov 22.

Department of Physiology, Taibah College of Medicine, Taibah University, Al-Madinah Al-Munawwarah, Saudi Arabia.

Dichloroacetate (DCA) is a promising safe anticancer drug that cured a patient with chemoresistant non-Hodgkin's lymphoma and treated lactic acidosis effectively. The well-known mechanism of DCA action is through stimulating Krebs cycle (stimulating pyruvate dehydrogenase via inhibiting pyruvate dehydrogenase kinase). This prevents lactate formation (Warburg effect) depriving cancer cells of lactate-based benefits e. Read More

Medicine (Baltimore) 2018 Dec;97(52):e13866

Rationale: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are thought to be rarely accompanied by macroangiopathy. We reported a case of MELAS that presented right distal internal carotid arterial (ICA) stenosis and reviewed 12 similar previously reported cases involving intracranial large blood vessels.

Patient Concerns: A 38-year-old man suffered from recurrent stroke-like episodes (SE) such as alternating hemiparesis (right lesion 3 years ago and current left lesion), cortical blindness and seizure for 3 years, and was previously misdiagnosed as cerebral infarction. Read More

Saudi J Kidney Dis Transpl 2018 Nov-Dec;29(6):1480-1483

Department of Internal Medicine, Universidad Ricardo Palma, Santiago de Surco, Peru.

Lactic acidosis is a life-threatening and rather common complication and reason for consultation to the nephrologist. The cause for this condition is usually thought to be secondary to hypoperfusion and ischemia collectively. However, many other rare causes have been described, yet there is little awareness of these, consequently delaying optimal care. Read More

Pediatr Blood Cancer 2018 Dec 26:e27591. Epub 2018 Dec 26.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Background: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children.

Results: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Read More

Int J Mol Sci 2018 Dec 21;20(1). Epub 2018 Dec 21.

Laboratory of Pathophysiology, Department of Biomedical Sciences, University of Antwerp, 2000 Antwerp, Belgium.

Over the past decades metformin has been the optimal first-line treatment for type 2 diabetes mellitus (T2DM). Only in the last few years, it has become increasingly clear that metformin exerts benign pleiotropic actions beyond its prescribed use and ongoing investigations focus on a putative beneficial impact of metformin on the kidney. Both acute kidney injury (AKI) and chronic kidney disease (CKD), two major renal health issues, often result in the need for renal replacement therapy (dialysis or transplantation) with a high socio-economic impact for the patients. Read More

Am J Med Genet A 2019 Mar 24;179(3):373-380. Epub 2018 Dec 24.

Spectrum Health Medical Group, Department of Medical Genetics, Grand Rapids, Michigan.

The most frequent cause of isolated complex III deficits is mutations to the nuclear-encoded ATPase BCS1L. Disease phenotypes are varied and can be as mild as Björnstad syndrome, characterized by pili torti and sensorineural hearing loss, or as severe as GRACILE syndrome, characterized by growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. BCS1L mutations are also linked to an undefined complex III deficiency, a heterogeneous condition generally involving low birth weight, renal and hepatic pathologies, hypotonia, and developmental delays. Read More

Case Rep Nephrol 2018 15;2018:4696182. Epub 2018 Nov 15.

Department of Medicine, Division of Nephrology, Kidney Research Centre, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, ON, Canada.

Metformin-associated lactic acidosis [MALA] is a potentially fatal condition characterized by an elevation in serum lactate in patients with metformin exposure. An 82-year-old man with no prior renal history was brought to hospital after being found by his family in a confused state. He had a history of type 2 diabetes mellitus, and his medications included regular metformin. Read More

Case Rep Nephrol 2018 18;2018:1019034. Epub 2018 Nov 18.

Program Director of Hematology Oncology Fellowship at St. Joseph's University Medical Center, 703 Main St, Paterson, NJ 07503, USA.

Malignancy associated lactic acidosis is a rare metabolic complication that may accompany various types of malignancies. To date, most cases that have been reported are associated with hematologic malignancies (lymphoma and leukemia). Many theories have been proposed to explain the pathophysiology of lactic acidosis in malignancies. Read More

Adv Exp Med Biol 2018 ;1085:163-165

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Patients with maternally inherited diabetes and deafness (MIDD) have insulin-dependent diabetes with relatively low BMI; usually the onset of the diabetes is during the third or fourth decade of life and it is associated with progressive neurosensory deafness. The fundus shows circumferentially oriented but discontinuous patches of RPE and choriocapillaris (CC) atrophy around the macula, within the arcades (Figs. 31. Read More

Adv Exp Med Biol 2018 ;1085:161-162

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. The clinical abnormalities are heterogeneous, and they usually begin in childhood. Premature death occurs because of cardiac conduction defects. Read More

Clin Interv Aging 2018 27;13:2421-2424. Epub 2018 Nov 27.

Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China,

Few cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) with an onset older than 60 years have been reported. Herein, we report a 63-year-old Chinese female initially suspected of ischemic infarction but was ultimately diagnosed with MELAS. Therefore, even in the elderly, a diagnosis of MELAS should be considered when encountering patients with recurrent stroke-like episodes, cognitive dysfunction, and psychotic symptoms. Read More

BMJ Case Rep 2018 Nov 28;11(1). Epub 2018 Nov 28.

Department of Internal Medicine, Pulmonary and Critical Care, University of Texas Southwestern, Dallas, Texas, USA.

Older patients with type 2 diabetes are prone to developing adverse events with aggressive antihyperglycaemic therapy. Metformin-associated lactic acidosis (MALA) is one such rare, life-threatening adverse drug effect. We report the case of a 70-year-old man with a glycated haemoglobin of 7. Read More

Yonsei Med J 2019 Jan;60(1):98-105

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Purpose: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetic testing is important in the diagnosis of MELAS. Read More