An Experimental Procedure Could Help More Families Have Healthy Babies. But It ’s Not Allowed in the U.S.

When Noah Shulman was born a few days after Christmas 2016, his parents Kristelle and Evan had no reason to worry about him. The pregnancy went smoothly, and so did the birth. But within a few days of taking his first breath, Noah began to struggle. He wasn’t feeding, so he started losing weight. He was also lethargic. Several pediatricians reassured the Shulmans that they were probably just overly sensitive to Noah’s symptoms because Kristelle is a nurse and Evan is a physician assistant–a case of first-time-parent-white-coat syndrome. “They kind of dismissed us as neurotic parents,” says Evan. But when Noah strained to breathe, the alarmed Shulmans took him to the emergency room, and he spent the next few months in the hospital. After a harrowing month of medical emergencies that included seizures and a heart attack, the Shulmans learned that their son had a rare genetic disease that affected his mitochondria. About 1 in 4,000 people worldwide–20,000 in the U.S.–have mitochondrial diseases. Mitochondria are present in nearly every cell in the human body, and they provide energy for everything cells do, acting as the body’s molecular batteries. They also have their own DNA, and mutations can cause hearing loss, diabetes, muscle weakness, seizures and heart problems. There are no treatments for mitochondrial disorders, as it’s not yet possible to repair or alter the affected mitochondrial genes using gene therapy. Three m...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized fertility Research Source Type: news

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We report the case of a 53 year-old male presenting with hematuria, pain and induration of the penis 2 and half years after the diagnosis of left colon cancer. CT scan demonstrated involvement of the corpus spongiosum and corpora cavernosa with enlarged external inguinal lymph nodes and asymptomatic metastasis in the liver and lungs.The finding of a penile lesion in a cancer patient is an alarming sign and should indicate a disseminated disease. The prognosis of penile metastasis is poor.
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: Available online 16 March 2019Source: Preventive MedicineAuthor(s): Xuanzi Qin, Rebekah H. Nagler, Erika Franklin Fowler, Sarah E. GollustAbstractThe American Cancer Society and the U.S. Preventive Task Force recently recommended that women initiate routine breast cancer screening at older ages (45 and 50, respectively) than previously recommended, and both organizations emphasize the importance of weighing the harms of mammograms against the benefits in making informed decisions. However, little is known from national samples about how women perceive the harms and benefits of mammograms, and how these pe...
Source: Preventive Medicine - Category: International Medicine & Public Health Source Type: research
Authors: Liakakis G Abstract Subcortical small-vessel disease (SSVD) is a disorder that has been fully described in clinical, neuropathological and imaging aspects. It is considered as the most prevalent ischemic CNS disorder and has been associated to arterial hypertension, diabetes mellitus, dyslipidemia and obstructive sleep apnea. The hallmark of SSVD is the ischemic white matter lesions which can be presented as lacunar infracts and global brain hypoperfusion in a common and homogeneous subtype of vascular cognitive impairment (VCI) which is often unrecognized. The special nature and course of SSVD offers the ...
Source: Hellenic Journal of Nuclear Medicine - Category: Nuclear Medicine Tags: Hell J Nucl Med Source Type: research
Authors: Malegiannaki AC, Katsarou D, Liolios A, Zisi V Abstract Individuals with Down Syndrome (DS) are commonly characterized by unique neurocognitive and neurobehavioural profiles that emerge within specific stages in the developmental continuum. A plethora of studies have confirmed DS's relationship to premature aging and subsequent cognitive decline. Due to having three copies of the amyloid precursor protein (APP) gene which results in amyloid-beta plaque deposition, the cognitive decline often resembles the decline observed in Alzheimer's disease. More specifically, as individuals with DS mature in age (>...
Source: Hellenic Journal of Nuclear Medicine - Category: Nuclear Medicine Tags: Hell J Nucl Med Source Type: research
Authors: Paraskevas GP Abstract Hereditary types of ischemic cerebral subcortical small vessel disease (SSVD) are rare, usually autosomal dominant, diseases, due to an abnormality in vessel wall synthesis. They may present with various combinations of migraine with aura, ischemic events (transient ischemic attacks, lacunar strokes) and progressively worsening ischemic lesion load in brain imaging. Eventually, vascular cognitive impairment (usually of the frontal-subcortical type) develops, frequently accompanied by behavioral-psychiatric symptoms and bilateral pyramidal and pseudobulbar signs leading to severe disa...
Source: Hellenic Journal of Nuclear Medicine - Category: Nuclear Medicine Tags: Hell J Nucl Med Source Type: research
This report details our unusual case of successful treatment of a perforating diametric craniocerebral gunshot wound. PMID: 30877796 [PubMed - as supplied by publisher]
Source: Military Medicine - Category: International Medicine & Public Health Tags: Mil Med Source Type: research
This study was performed to systematically estimate the prognostic role of GAPLINC expression in cancer patients.MethodsSeveral electronic databases, including PubMed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), and Wan Fang databases were searched for potential literature (updated to September 3, 2018). The pooled hazard ratios (HRs), odds ratios (ORs) and 95% confidence intervals (CIs) were calculated with a fixed effects model using Stata12.0 software.ResultsThe pooled results indicated that elevated GAPLINC was significantly related to shorter overall survival (OS) (HR = 1.66, 95% CI: 1.40-1.93, p
Source: Pathology Research and Practice - Category: Pathology Source Type: research
Publication date: Available online 16 March 2019Source: Journal of Orthopaedic TranslationAuthor(s): Weiping Lin, Liangliang Xu, Gang LiSummaryCell therapy holds promise for treating a variety of diseases. Seeking available source of adult stem cells remains a great challenge in cell therapy. Urine is considered as an ideal source of adult stem cells which can be easily acquired by noninvasive methods. However, specific cell types in urine have not been well documented. Here, the aim of our study is to identify cell types in urine, and isolate and expand progenitor/stem cells from human urine and further evaluate their mul...
Source: Journal of Orthopaedic Translation - Category: Orthopaedics Source Type: research
CONCLUSION: Fasting measurements of glucose and C-peptide as well as the surrogate indices of glycemic condition could be used for stratifying pregnant females with higher risk of GDM at the beginning of pregnancy. PMID: 30877716 [PubMed - as supplied by publisher]
Source: Diabetes and Metabolism Journal - Category: Endocrinology Tags: Diabetes Metab J Source Type: research
Authors: Seo DH, Kim SH, Song JH, Hong S, Suh YJ, Ahn SH, Woo JT, Baik SH, Park Y, Lee KW, Kim YS, Nam M, KNDP Study Group Abstract BACKGROUND: Recent evidences indicate that early rapid renal function decline is closely associated with the development and progression of diabetic kidney disease. We have investigated the association between carotid atherosclerosis and rapid renal function decline in patients with type 2 diabetes mellitus and preserved renal function. METHODS: In a prospective, multicenter cohort, a total of 967 patients with type 2 diabetes mellitus and preserved renal function were followed for...
Source: Diabetes and Metabolism Journal - Category: Endocrinology Tags: Diabetes Metab J Source Type: research
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