Family From Ireland Hopes Boston Doctors Can Save Boy’s Life

BOSTON (CBS) — Cian McDonnell-Lynch is just four years old. He’s been given until Christmas to live. His family, saying they refuse to give up, has traveled to Boston Children’s Hospital in the hopes that one of the world’s premiere hospitals can help keep him alive. Cian has been fighting an often deadly bone marrow disorder called Dyskeratosis Congenita since birth. “It’s a very rare disease,” his mother, Lisa McDonnell, told WBZ-TV Tuesday. “It affects one in a million. And Cian is actually at the more severe end of the syndrome.” Cian McDonnell-Lynch and his family in Boston (WBZ-TV) The disease left Cian permanently blind at the age of one. He did get a successful bone marrow transplant two years ago, but the disease is now affecting his lungs with another rare and deadly disorder, microscopic pulmonary AVMS. “They’re actually microscopic blood vessels; they’re malformations,” his mother explained. “And the oxygenated blood is not getting around to his whole body.” “We were told today that it’s actually progressing very quick, so we’re just really really hoping that he’ll be accepted onto the transplant list here in Boston.” Cian has been given only a few months to live. A double-lung transplant would likely save his life, but he was rejected for one at a hospital in London. “He was the first child that they’ve seen with this condi...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Health Local News Syndicated Local Cian McDonnell-Lynch Hope For Cian liam martin Source Type: news

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Authors: Marchioni M, Berardinelli F, De Nunzio C, Spiess P, Porpiglia F, Schips L, Cindolo L Abstract Penile cancer is a rare disease. Most of penile cancer are squamous cell carcinoma. Diagnosis is based on self-examination, clinical examination and confirmatory biopsy. Several imaging technique could be used for staging purpose. However, the best modality for staging in intermediate and high risk patients is by surgical evaluation and the use of inguinal lymph node dissection, that has also a therapeutic effect. Unfortunately, inguinal lymph node dissection is underused. Penile cancer treatment may have a major ...
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
Hug shirts, smellphones, virtual tastes, bionic eyes and hearing aids doing translations – just a few keywords showing how technology will take human perception to a higher level in the future. Innovative healthcare solutions will go way beyond improving our senses when we experience problems, they will augment our capabilities and open new horizons for humanity. Let’s jump into the pool of details. How humans perceive the sensory cacophony called the world Car. Flower. Smartphone. Leaf. Shadow. Ponytail. Red Sweater. Monitor. Water. Coffee. Beeps. Sidney Bechet tunes. Bicycle. Laugh. Light breeze. Holiday mem...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Biotechnology Cyborgization Health Sensors & Trackers Medical Professionals Patients body augmentation future Healthcare hearing human human perception Medicine sense sensing smell taste touch vision Source Type: blogs
Contributors : Chen Weng ; Fulai Jin ; Leina LuSeries Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiens ; Mus musculusPancreatic endocrine cells orchestrate the precise control of blood glucose levels, but the contribution of each cell type to diabetes or obesity remains elusive. Here we used a massively parallel single-cell RNA-seq technology (Drop-Seq) to analyze the transcriptome of 26,677 pancreatic islets cells from both healthy and type II diabetic (T2D) donors. We have analyzed cell type-specific gene signatures, and de...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Mus musculus Source Type: research
AbstractMale breast cancer is rare, accounting for 1% of all breast cancer diagnoses in the USA. Because of its rarity, most major breast cancer trials have included only female patients. This has resulted in limited prospective data to guide the clinical management of men with breast cancer. As a result, treatment decisions are typically extrapolated from data generated in female patients. This approach may be suboptimal, particularly considering the differing hormonal milieus between men and women with respect to both breast cancer development and treatment. Herein, we summarize current knowledge of the biology and clini...
Source: Cancer and Metastasis Reviews - Category: Cancer & Oncology Source Type: research
Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist i...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ConclusionPartial laparoscopic splenectomy can be considered a safe, effective and reproducible alternative in patients suffering from benign solid diseases, safeguarding the hematological functions of the organ itself in pediatric age.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
A study linking silicone gel-filled breast implants with several rare diseases should be viewed with caution, according to FDA. The authors of the study, published last week in the Annals of Surgery, say they looked at data from nearly 100,000 breast implant procedures gleaned from FDA-mandated postmarket studies for implants made by Johnson &Johnson's Mentor business, and by Allergan. The analysis showed that silicone implants are associated with higher rates of  Sjögren syndrome, scleroderma, rheumatoid arthritis, stillbirth, and melanoma. The researchers reported that 56% of the ...
Source: MDDI - Category: Medical Devices Authors: Tags: Implants Source Type: news
Conclusions: DILS is a rare disease found in PLWHA. Hypertension is a risk factor for incident DILS, and HAART could affect the pathogenesis of DILS. Zalcitabine was the only antiretroviral agent found to increase the risk of DILS.
Source: JAIDS Journal of Acquired Immune Deficiency Syndromes - Category: Infectious Diseases Tags: Epidemiology Source Type: research
This article focuses on how catecholamines affect the heart and the pathophysiologic mechanism of CICMPP. The cardiovascular responses to catecholamine depend mostly on which catecholamine is released as well as the amount of catecholamine that is released. The acute release of norepinephrine and epinephrine from PHEO increases heart rate, systemic vascular resistance, myocardial contractility, and reduces venous compliance. The excessive adrenergic stimulation by catecholamine results in severe vasoconstriction and coronary vasospasm, myocardial ischemia, and subsequently damage, and necrosis. Chronically elevated catecho...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Tags: Review Source Type: research
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