tbuckley/cabot-search huggingface dataset:
A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.
Authors: A C Moses, H N Rosen, D E Moller, S Tsuzaki, J E Haddow, J Lawlor, J J Liepnieks, W C Nichols, M D Benson
Journal: Journal of Clinical Investigation (1990)

In a family expressing euthyroid hyperthyroxinemia, an increased association of plasma thyroxine (T4) with transthyretin (TTR) is transmitted by autosomal dominant inheritance and is secondary to a mutant TTR molecule with increased affinity for T4. Eight individuals spanning three generations exhibited the abnormality. Although five of eight individuals had elevated total T4 concentrations, all affected individuals were clinically euthyroid and all had normal free T4 levels. Purified TTR from the propositus had an affinity for 125I-T4 three times that of control TTR. Exons 2, 3, and 4 (representing greater than 97% of the coding sequence) of the TTR gene of DNA prepared from the propositus' peripheral blood leukocytes were amplified using the polymerase chain reaction (PCR) and were sequenced after subcloning. Exons 2 and 3 were indistinguishable from normal. In 50% of clones amplified from exon 4, a substitution of adenine (ACC) for guanine (GCC) in codon 109 resulted in the replacement of threonine-for-alanine, a mutation confirmed by amino acid sequencing of tryptic peptides derived from purified plasma TTR. The adenine-for-guanine substitution abolishes one of two Fnu 4H I restriction sites in exon 4. PCR amplification of exon 4 of TTR and restriction digestion with Fnu 4H I confirmed that five affected family members with increased binding of 125I-T4 to TTR are heterozygous for the threonine 109 substitution that increases the affinity of this abnormal TTR for T4.
Psychoactive drug use: Expand the scope of outcome assessment
Authors: Alfonso Troisi
Journal: Behavioral and Brain Sciences (2011)

Abstract The “hijacking” and “drug instrumentalization” models of psychoactive drug use predict opposite outcomes in terms of adaptive behavior and fitness benefits. Which is the range of applicability of each model? To answer this question, we need more data than those reported by studies focusing on medical, psychiatric, and legal problems in addicted users. An evolutionary analysis requires a much wider focus.
Clonazepam: effective treatment for restless legs syndrome in uraemia.
Authors: D J Read, T G Feest, M A Nassim
Journal: BMJ (1981)

Orchidectomy alone for stage I testicular teratomaIt has been common practice in the United Kingdom to recommend abdominal lymph node irradiation after orchidectomy for malignant teratoma of the testis, even in the absence of demonstrable abdominal disease.We present the details of 21 men whose only treatment at the time of presentation was orchidectomy.Their subsequent survival and pattern of relapse were compared to a similar group of irradiated patients to determine the benefits of prophylactic irradiation. Patients, methods, and resultsAll patients were referred after radical orchidectomy.Clinical examination and chest radiography were the only staging procedures consistently adopted and no evidence of metastases was found.Twenty-one men seen between 1946 and 1973 received no further treatment at the time of referral.Histological specimens were reviewed at this hospital.Eighteen were malignant teratoma intermediate, two were malignant teratoma undifferentiated, and one was malignant teratoma trophoblastic.Between 1961 and 1970 100 men received postoperative lymph node irradiation.Thirty-three had malignant teratoma intermediate, 39 malignant teratoma undifferentiated, two malignant teratoma trophoblastic, two mixed teratoma and trophoblastic, and 24 mixed teratoma and seminoma.In more than two-thirds of the untreated patients radiotherapy was deferred because of recurring doubts about its efficacy.One patient was receiving peritoneal dialysis for unrelated chronic renal failure and another was severely mentally retarded.Two refused further treatment, and one was not referred until six months after orchidectomy.Fourteen patients remained alive and well.All deaths (7 of 21) occurred within two years of presentation and were due to metastatic disease.One patient died with uncontrolled para-aortic disease, six with widespread metastatic disease, and five with definite lung metastases.Analysis of deceased patients from the untreated group Time Case Age
Renal Complications in Diabetes Mellitus
Authors: W. R. Gauld, A. L. Stalker, A. Lyall
Journal: BMJ (1948)

<h3>Abstract</h3> Advancements in portable scientific instruments provide promising avenues to expedite field work in order to understand the diverse array of organisms that inhabit our planet. Here we tested the feasibility for <i>in situ</i> molecular analyses of endemic fauna using a portable laboratory fitting within a single backpack, in one of the world’s most imperiled biodiversity hotspots: the Ecuadorian Chocó rainforest. We utilized portable equipment, including the MinION DNA sequencer (Oxford Nanopore Technologies) and miniPCR (miniPCR), to perform DNA extraction, PCR amplification and real-time DNA barcode sequencing of reptile specimens in the field. We demonstrate that nanopore sequencing can be implemented in a remote tropical forest to quickly and accurately identify species using DNA barcoding, as we generated consensus sequences for species resolution with an accuracy of &gt;99% in less than 24 hours after collecting specimens. In addition, we generated sequence information at Universidad Tecnológica Indoamérica in Quito for the recently re-discovered Jambato toad <i>Atelopus ignescens</i>, which was thought to be extinct for 28 years, a rare species of blind snake <i>Trilepida guayaquilensis</i>, and two undescribed species of <i>Dipsas</i> snakes. In this study we establish how mobile laboratories and nanopore sequencing can help to accelerate species identification in remote areas (especially for species that are difficult to diagnose based on characters of external morphology), be applied to local research facilities in developing countries, and rapidly generate information for species that are rare, endangered and undescribed, which can potentially aid in conservation efforts.
Dealing with editorial misconduct
Authors: Clive D Bates
Journal: BMJ (2005)

Editor—With reference to Godlee's article on editorial misconduct I would like to have seen a commitment to apply the same standards of rigour to press releases and media commentary that announce the published research.1 Don't blame hype all on the press. Journals have been known to feed the frenzy by:



Allowing generalisations to be made from narrow and specific results


Giving undue prominence to a single “contrarian” result, when many others suggest the opposite


Allowing purely theoretical constructs to be interpreted as reality and empirically based


Allowing evidence free assertions about long term promise of things, such as cures for cancer


Interpreting statistical insignificance as evidence of no effect rather than insufficient power or a demand for excessive though arbitrary confidence thresholds.






And, I'm sure there are more.
Improving Parenting Skills for Families of Young Children in Pediatric Settings
Authors: Ellen C. Perrin, R. Christopher Sheldrick, Jannette M. McMenamy, Brandi S. Henson, Alice S. Carter
Journal: JAMA Pediatrics (2013)

IMPORTANCEDisruptive behavior disorders, such as attention-deficient/hyperactivity disorder and oppositional defiant disorder, are common and stable throughout childhood.These disorders cause long-term morbidity but benefit from early intervention.While symptoms are often evident before preschool, few children receive appropriate treatment during this period.Group parent training, such as the Incredible Years program, has been shown to be effective in improving parenting strategies and reducing children's disruptive behaviors.Because they already monitor young children's behavior and development, primary care pediatricians are in a good position to intervene early when indicated.OBJECTIVE To investigate the feasibility and effectiveness of parent-training groups delivered to parents of toddlers in pediatric primary care settings.DESIGN, SETTING, AND PARTICIPANTS This randomized clinical trial was conducted at 11 diverse pediatric practices in the Greater Boston area.A total of 273 parents of children between 2 and 4 years old who acknowledged disruptive behaviors on a 20-item checklist were included.INTERVENTION A 10-week Incredible Years parent-training group co-led by a research clinician and a pediatric staff member.MAIN OUTCOMES AND MEASURES Self-reports and structured videotaped observations of parent and child behaviors conducted prior to, immediately after, and 12 months after the intervention.RESULTS A total of 150 parents were randomly assigned to the intervention or the waiting-list group.An additional 123 parents were assigned to receive intervention without a randomly selected comparison group.Compared with the waiting-list group, greater improvement was observed in both intervention groups (P < .05).No differences were observed between the randomized and the nonrandomized intervention groups.CONCLUSIONS AND RELEVANCE Self-reports and structured observations provided evidence of improvements in parenting practices and child disruptive behaviors that were attributable to participation in the Incredible Years groups.This study demonstrated the feasibility and effectiveness of parent-training groups conducted in pediatric office settings to reduce disruptive behavior in toddlers.
Improved procedural results of coronary stenting with focal balloon “overexpansion” — final core lab analysis from the prospective, multicenter OSTI-2A trial
Authors: G.W. Stone, S. Kiesz, S. Bailey, T. Sanbom, D. Roberts, A. Oshima, E. Alderman, P. Yock, F.St. Goar, T.J. Linnomeier
Journal: Journal of the American College of Cardiology (1998)
Preventing and treating postnatal depression
Authors: C.-L. Dennis
Journal: BMJ (2009)

Comprehensive screening programmes and better organisation of care are key

Two linked studies assess different approaches for preventing and treating postnatal depression.1 2 This condition is a common form of maternal morbidity that affects about one in eight women from diverse cultures.3 It is also a leading cause of maternal mortality. The UK Confidential Enquiry into maternal deaths found that psychiatric disorders contributed to 12% of all maternal deaths, with suicide being identified as the leading cause of maternal mortality in the United Kingdom.4 Postnatal depression can also have serious consequences for the health and wellbeing of the family. Infants and children are particularly vulnerable—impaired maternal-infant interactions can affect their cognitive, emotional, social, and behavioural development. Clearly, postnatal depression is a substantial public health problem that requires attention.

Given the diversity in causes and severity of symptoms, researchers have evaluated various treatments. Although antidepressants are effective many women are reluctant to take medication, especially when breast feeding. A recent systematic review indicates that psychosocial and psychological interventions may provide an alternative to pharmacological treatment.5 In the linked randomised controlled trial (doi:10.1136/bmj.a3045), Morrell and …
Dual Inhibition of the Epidermal Growth Factor Receptor with Cetuximab, an IgG1 Monoclonal Antibody, and Gefitinib, A Tyrosine Kinase Inhibitor, in Patients with Refractory Non-small Cell Lung Cancer (NSCLC): A Phase I Study
Authors: Suresh Ramalingam, Judy Forster, Cynthia Naret, Terry Evans, Matt Sulecki, Haolan Lu, Paola Teegarden, Martin R. Weber, Chandra P. Belani
Journal: Journal of Thoracic Oncology (2008)
Urethral-Bladder Syndromes
Authors: C. Balcom Moore
Journal: JAMA (1971)

<h3>To the Editor.—</h3> In regard to the question and response "Psychogenic Urethral Bladder Syndrome" (<b>217</b>:832, 1971), May I add the following observation? All too often a low-grade infection of the periurethral glands or Skene's glands can cause exactly the type of problem that was outlined. All findings are completely normal as in this outlined case, yet, definite infection is present. It can be determined only by stripping the urethra and observing the drop or two of purulent exudate which can be obtained. Admittedly, many of these women have a marked psychoneurotic nature but obliterating these infected glands will give complete relief and freedom from the stigma of being called neurotic. Sometimes examinations have to be repeated two or three times to demonstrate this purulent change. In a recent case, examination in January showed nothing, but in August a definite, typical, purulent infection was seen. Sometimes ablation has to be
Inhibiting peripheral serotonin synthesis reduces obesity and metabolic dysfunction by promoting brown adipose tissue thermogenesis
Authors: Justin D Crane, Rengasamy Palanivel, Emilio P Mottillo, Adam L Bujak, Huaqing Wang, Rebecca J Ford, Andrew Collins, Regje M Blümer, Morgan D Fullerton, Julian M Yabut, Janice J Kim, Jean-Eric Ghia, Shereen M Hamza, Katherine M Morrison, Jonathan D Schertzer, Jason R B Dyck, Waliul I Khan, Gregory R Steinberg
Journal: Nature Medicine (2014)
Guantanamo: a call for action
Authors: Michael Wilks
Journal: BMJ (2006)

Doctors and their professional bodies can do more than they think 

A ccording to the British prime minister, Tony Blair, the detention facility at Guantanamo Bay, Cuba, is an “anomaly.” Set against the Western tradition of ethics and human rights, the facility most certainly is, but it is also a place where detainees have lost all legal protection, torture is rife, and doctors have abandoned their ethical responsibilities.

The psychiatrist Robert Lifton, in studying the history and psychology of the Nazi doctors, showed how easily ethical principles were lost and replaced by acts that classified Jews, Romany gypsies, disabled people, and homosexuals as fit for the gas chamber and the medical laboratory.1 Such behaviour by doctors has been repeated (in different contexts) in the former Soviet Union, South Africa, and Chile, and now in Guantanamo Bay.

The cultural context in Guantanamo Bay was set by two US presidential decrees. The first was to remove the protection of the Geneva Convention from “combatants” suspected to be members of Al Qaeda and the Taliban.2 The second was to upwardly regrade torture, defining it as such only when the physical pain …
ETHYLENE IN OBSTETRICS
Authors: N. SPROAT HEANEY
Journal: JAMA (1924)

In the maternity section of the Presbyterian Hospital, Chicago, we have used ethylene and oxygen 215 times during the last year, with very satisfactory results. For operative obstetric work it is without approach among anesthetics, since so many women requiring operative delivery are jeopardized. Bronchitis, nephritis, myocarditis, valvular heart disease, high blood pressure and eclampsia are not infrequent complications of labor requiring operative intervention. In such cases the choice of an anesthetic is a matter of great importance. Ether is a pulmonary irritant and, in addition, is injurious to the kidney and liver—organs already damaged by the intoxication of pregnancy. Women who have had cesarean section not infrequently become precariously ill after ether from acute dilatation of the stomach. The frequency of this alarming condition is a big argument against cesarean section as an elective method of delivery in cases of grave heart disease, because the advantages of the operative
Deferiprone (GPO‐L‐ONE<sup>®</sup>) monotherapy reduces iron overload in transfusion‐dependent thalassemias: 1‐year results from a multicenter prospective, single arm, open label, dose escalating phase III pediatric study (GPO‐L‐ONE; A001) from Thailand
Authors: Vip Viprakasit, Issarang Nuchprayoon, Ampaiwan Chuansumrit, Kitti Torcharus, Bunchoo Pongtanakul, Jiraporn Laothamatas, Somdet Srichairatanakool, Julaporn Pooliam, Siriwat Supajitkasem, Prapat Suriyaphol, Voravarn S. Tanphaichitr, Soodsarkorn Tuchinda
Journal: American Journal of Hematology (2013)

Accessibility to iron chelators including deferoxamine and deferasirox remains obscured in many developing countries. To provide an alternative, the government pharmaceutical organization of Thailand (GPO) manufactured deferiprone which has similar bioequivalent to the standard product. Seventy-three pediatric patients with severe β thalassemias, age range 3.2-19 years, were recruited to a 1-year multicenter prospective, single arm, open label, dose escalating Phase III study of deferiprone to determine its clinical efficacy and safety. Sixty-four patients (87.6%) completed the study with good compliance (>94%). Average deferiprone dose was 79.1±4.3 mg/kg/day. Overall, mean serum ferritin (SF) levels at 1 year were not significantly changed from baseline. However, 45% of patients (response group) had SF reduced >15% from baseline at 1 year with a median reduction of 1,065 ng ml(-1) . Baseline SF was the major factor that predicts clinical efficacy; patients with baseline SF>3,500 ng ml(-1) had the most significant fall of SF at 1 year. A subgroup analysis by MRI-T2* confirmed that the response group had higher baseline liver iron and deferiprone could significantly reduce liver iron overload and normalize levels of ALT at 1 year. Although, gastrointestinal irritation (20.5%) was the most common drug-related adverse events (AEs) followed by transaminitis (16.4%) and neutropenia (6.8%), all patients were well tolerated. There was no mortality and agranulocytosis found in this trial. Monotherapy of deferiprone with appropriate dose adjustment and monitoring for adverse events appeared to be an effective chelation therapy in some patients with good compliance and acceptable safety profiles.
RUPTURE OF DEEP EPIGASTRIC ARTERY BY MUSCULAR STRAIN: REPORT OF A CASE
Authors: Mark Lewis Emerson
Journal: JAMA (1918)

<h3>History.</h3> —A housewife, white, aged 42, with four living children, had had seven miscarriages, five of which had occurred between the third and fifth month, and two during the seventh month. She was admitted to the Merritt Hospital at 9:30 p. m., Sept. 8, 1917, and discharged as cured, November 10. The patient stated that about 5:30 p. m. on the day of admission, four hours before reaching the hospital, while trying to place a curtain rod over a window bracket, she had jumped up a few inches from the floor, extending her body on her right leg. She had suddenly been seized with a severe pain in the lower left abdomen, had fallen to the floor, and had then fainted. She had awakened to find that she had been placed on her bed. She had felt cold, with clammy sweats, and had been thirsty and very restless Her family
Acquired zinc deficiency disease of skin
Authors: DENISE WEXLER, WILLIAM PACE
Journal: British Journal of Dermatology (1977)

Two patients, who were on long term parenteral hyperalimentation, developed skin lesions similar to those seen in acrodermatitis enteropathica. Both patients were treated with oral zinc sulphate and their skin lesions cleared completely. These patients are presented as an acquired zinc deficiency syndrome.
Centrilobular Emphysema with Predominantly Upper-Lobe Involvement
Authors: Andetta R Hunsaker, John J Reilly
Journal: New England Journal of Medicine (2003)

A 57-year-old man with severe, disabling end-stage emphysema presented for enrollment in the National Emphysema Treatment Trial. After the completion of pulmonary rehabilitation, he was randomly assigned to the surgery group. Before surgery, the patient was able to walk only 100 to 200 yd (91 to 183 m) on level ground because of dyspnea and could not perform the activities of daily living. Preoperative axial computed tomography showed severe, heterogeneous emphysema that predominantly affected the upper lobes. Color-enhanced, three-dimensional, volume-rendered imaging was used, in which areas in the lungs that are less than or equal to –1000 Hounsfield units (indicative . . .
Ankylosing spondylitis without B27: no evidence for gene conversion.
Authors: C T Pease, S A Ellis, A J McMichael, D A Brewerton
Journal: Annals of the Rheumatic Diseases (1988)

Isoelectric focusing gel electrophoresis was used to look for variant HLA molecules in five patients with HLA-B27 negative ankylosing spondylitis (AS). The isoelectric points of the HLA-A and B antigens from these patients and HLA paired controls were identical. This implies that the HLA-A and B antigens from the patients with AS and the controls are similar. Gene conversion of a nucleotide sequence from a B27 positive gene is thus unlikely to be the explanation for the existence of AS in patients who are HLA-B27 negative by alloantisera typing.
Paternity Exclusions by the Blood-Grouping Test
Authors: J. C. Thomas
Journal: BMJ (1937)

<b>Aim:</b> To investigate the association between the use of cellular or cordless telephones and the risk for salivary gland tumours. <b>Methods:</b> Cases were assessed from the six regional cancer registries in Sweden. Four controls matched for sex and age in five year age groups were selected for each case. A total of 293 living cases and 1172 controls were included. <b>Results:</b> There were 267 (91%) participating cases and 1053 (90%) controls. Overall no significantly increased risk was found. Odds ratios were 0.92 (95% CI 0.58 to 1.44) for use of analogue phones, 1.01 (95% CI 0.68 to 1.50) for use of digital phones, and 0.99 (95% CI 0.68 to 1.43) for use of cordless phones. Similar results were found for different salivary gland localisations. No effect of tumour induction period or latency was seen, although few subjects reported use for more than 10 years. <b>Conclusions:</b> No association between the use of cellular or cordless phones and salivary gland tumours was found, although this study does not permit conclusions for long term heavy use.
Adenoid cystic carcinoma of the left main bronchus mimicking MacLeod's syndrome.
Authors: C L Wright, M Gandhi, C A Mitchell
Journal: Thorax (1996)

A 15 year old girl who was labelled as having MacLeod's syndrome on the basis of a chest radiograph was subsequently, at the age of 23 years, found to have an adenoid cystic carcinoma obstructing the left main bronchus. This case emphasises the need to exclude a central lesion in cases of unilateral hyperlucent lung.
Some executed US prisoners may have suffocated
Authors: Anne Harding
Journal: BMJ (2007)

The government has admitted that it will have to wait years before it discovers whether there are real productivity gains from the new consultants' contract.NHS leaders also told the House of Commons Committee of Public Accounts last week that lessons had been learnt from mistakes made when the contract was introduced, such as not piloting it before implementation.They were giving evidence as part of the committee's inquiry into the consultants' contract.The session was prompted by the publication earlier this month of a report from the government's