Two cases of falciparum malaria acquired in Britain.

Two cases of severe falciparum malaria contracted in the United Kingdom occurred in residents of Sussex, living 10 and 15 km from Gatwick airport. One patient was the landlord of a public house much frequented by aircrew, and the other was the wife of a worker at the airport, who travelled close to the public house on the probable date she contracted her infection. Transmission was most probably due to the bite of an infected imported tropical anopheline mosquito transported in a vehicle from the aircraft to the site of transmission during the very hot and humid weather of July 1983. Prevention of further cases depends on increased diligence in "blocks-away" destruction of insects in aircraft flying from endemic areas, but there is a need for more study of acceptable alternative ways of delivering the insecticide. This "airport malaria" is well recognised on the continent, and physicians should be aware of its existence in those who have not travelled abroad but live or work near international airports.     

Treatment of Hypothalamic Obesity with Caffeine and Ephedrine

ObjectiveTo investigate the hypothesis that the peripheral actions of caffeine and ephedrine to increase sympathetic tone and metabolic rate and to preserve lean tissue will cause weight loss in patients with hypothalamic obesity.MethodsWe present 3 case studies of consecutive patients who presented with hypothalamic obesity and were treated with caffeine (200 mg) and ephedrine hydrochloride (25 mg) 3 times a day.ResultsAll patients were gaining weight at the time of initial assessment. The first patient lost 8% to 9% of her body weight and maintained that loss for the subsequent 2 years. The second patient lost 18.8% of her body weight and was maintaining a 9.5% weight loss after 6 years. The third patient lost 14% of her body weight during a 6- month period and gradually returned to her baseline weight during a period of 5 years, after which she was referred for bariatric surgical treatment.ConclusionThese 3 patients with hypothalamic obesity, who had been steadily gaining weight, lost a mean of 13.9% of their body weight, and 2 of them maintained weight loss for a period of years. Thus, caffeine and ephedrine appeared to halt weight gain and maintain a clinically significant weight loss in 2 of our 3 patients. A randomized clinical trial to confirm these findings would be appropriate but difficult because of the rarity of this disorder. (Endocr Pract. 2008;14:697-703)     

Raissa L. Berg's contributions to the study of phenotypic integration,with a professional biographical sketch

Raissa L. Berg had a remarkable career in many respects and an impact on the study of phenotypic integration that continues to increase over 50 years after the publication of her seminal paper in that area. She was born and lived most of her life in Russia, with most of her research focused on measuring spontaneous mutation rates in Drosophila. She was forced to abandon this work during the height of Lysenko''s power in Russia, so she turned temporarily to the study of correlation patterns in plants; ironically, this work has had a more enduring impact than her main body of research. She showed that floral and vegetative traits become decoupled into separate correlation ‘pleiades’ in plants with specialized pollinators, but floral and vegetative traits remain correlated in plants that have less specialized pollination. Unfortunately, her plant work is often mis-cited as providing evidence for increased correlations among floral traits due to selection by pollinators for functional integration, a point she never made and one that is not supported by her data. Still, many studies of correlation pleiades have been conducted in plants, with the results mostly supporting Berg''s hypothesis, although more studies on species with generalized pollination are needed.     

A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype

BACKGROUND: Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype. CASE: A 29-year-old woman decided to terminate her unwanted pregnancy because of ill health, as she had conceived soon after her last delivery by cesarian section. At 6 weeks of gestation, she took 2.5 mg of MTX 3 times a day for 7 days. The pregnancy termination failed, and the pregnancy was carried to term. A female infant was delivered who was growth retarded and had characteristic features of MTX embryopathy in addition to holoprosencephaly and other brain malformations, facial hypertrichosis, and long eyelashes-features that have not hitherto been described. CONCLUSIONS: We report the first case of holoprosencephaly in association with MTX exposure during the first 6 weeks of gestation. Physicians and the public should be aware of the effects of MTX on the fetus during pregnancy.     

Stimulation of the brachial plexus by a dislocated ICD lead: a rare complication

A 64-year-old female with a history of myocardial infarction in 2003 with an ejection fraction of 23% underwent an ICD implantation in July 2008 without complications (figure 1). In 1945 her right leg was amputated as a result of a war injury and in 2007 she was treated for a right-sided mamma carcinoma with a sentinel node procedure and curative radiotherapy. One month after the implantation of the ICD the patient had complaints of contractions of the biceps of her left arm resulting in continuous bending of her left arm with a frequency of 40 beats/min.     

Louisa May Alcott: her mysterious illness

Louisa May Alcott (1832-1888), famous in her own time and immortalized in ours as a major figure of the "American Renaissance," died at the age of 55 after intermittent suffering over 20 years. Her illnesses evoked intense interest in her time and in ours. Alcott tracked her signs and symptoms (in letters and journal entries), which included headaches and vertigo, rheumatism, musculo-skeletal pain, and skin rashes; in her final years she recorded severe dyspepsia with symptoms of obstruction, and headaches compatible with severe hypertension. Her death came suddenly with a stroke. Standard biographies propose that her illnesses were due to acute mercury poisoning from inorganic mercury medication she received for a bout of typhoid in 1863, a cause she herself believed. We have reviewed Alcott's observations, as well as those of others, and have determined that acute mercury poisoning could not have caused her long-term complaints. We propose instead that Alcott suffered a multi-system disease, possibly originating from effects of mercury on the immune system. A portrait of Alcott raises the possibility that she had systemic lupus erythematosus (SLE).     

Severe tinnitus in a patient with acquired deafness for over 50 years: a case report

Background

There have been many reports on the treatment effect of cochlear implantation and hearing aids in the treatment of tinnitus in patients with severe hearing loss. However, as far as we are aware, there are no reports of investigation of treatment approaches for the tinnitus of deaf patients whose communication is solely carried out in sign language due to a long duration of deafness.

Case presentation

We experienced a case of severe tinnitus with bilateral deafness for more than 50?years. The patient is a 69-year-old woman who communicates with her family solely in sign language. Family stress triggered the onset of tinnitus, accompanied by sleep disorder and palpitations. At the initial visit, she suffered from severe tinnitus (THI 94) as well as strong tendencies toward depression and anxiety. Because neither the patient nor her family was willing to use cochlear implantation, the administration of an antidepressant and a sleep-inducing agent was started, which resulted in improvement of the psychological conditions. Tinnitus distress, synchronized with the heartbeat, was relieved by the addition of autogenic training. At four and half years after the initial visit, the THI score had dropped to 0, and the subjective tinnitus and palpitation had almost disappeared, with only a low dose of antidepressant necessary.

Conclusion

A deaf patient with severe tinnitus was successfully treated with drug and psychotherapy.

     

Anna Meyer and the distinction between grades and clades in early models of gastropod evolution

Abstract. Anna Meyer published her first (and apparently last) scientific paper in 1913, in which she reported, in part, on the organization of the renogenital systems in the "Diotocardia" and "Monotocardia," and the evolutionary signal present in this character suite. Meyer's phylogeny broke with conventional wisdom of her time and she reconstructed early gastropod evolution as a sequence of branching events rather than a continuous grade. Her phylogeny was ignored because it did not correspond to the well-ordered grades that came to dominate gastropod systematics for over 75 years, but her schematics of renogenital configurations have been featured in the literature for over 55 years, sometimes without citation and redrawn to show a different set of relationships. We hope that the translation of her paper from German into English ( http://www.ucmp.berkeley.edu/collections/archdat.html ) will make her contribution more accessible to workers.     

Case report of acute necrotizing pancreatitis associated with combination treatment of sitagliptin and exenatide

ObjectiveTo report the first postmarketing case of necrotizing pancreatitis in a patient on combination therapy of sitagliptin and exenatide.MethodsWe describe the patient’s clinical presentation, laboratory test results, imaging, and autopsy findings.ResultsA 76-year-old woman with a history of type 2 diabetes mellitus presented with severe abdominal pain, vomiting, and fever requiring hospital admission. She had been treated with exenatide for 3 years to manage her diabetes mellitus. A few weeks before presentation, sitagliptin was added, presumably to further optimize her glycemic control. Acute pancreatitis was diagnosed during hospital admission. At initial presentation, her serum amylase concentration was 1136 U/L (reference range, 10-130 U/L) and her lipase concentration was greater than 3500 U/L (reference range, 0-75 U/L). In addition, computed tomography of the abdomen and pelvis demonstrated extensive pancreatic parenchymal necrosis. She had undergone previous cholecystectomy, reported no alcohol consumption, and had a normal lipid profile. Although she had a long-standing history of diabetes mellitus, she had no history of pancreatitis or other risk factors that would have caused her to develop the underlying condition. After initial brief improvement, her symptoms worsened, and despite aggressive care, her clinical state deteriorated and she died. Autopsy findings demonstrated acute necrotizing pancreatitis with complete digestion of the pancreas.ConclusionsConsidering the temporal relationship of her symptoms to the addition of sitagliptin to her existing exenatide regimen, this case strongly suggests a possible causal link between exenatide or sitagliptin (or the combination of the 2 drugs) and the etiology of pancreatitis in this patient. (Endocr Pract. 2012;18:e10-e13)     

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

ABSTRACT: INTRODUCTION: Ring chromosome 15 is a rare disorder, with only a few over 40 cases reported in the literature. There are only two previous reports of cases where patients with ring chromosome 15 have been followed-up. CASE PRESENTATION: We report here on the 20-year clinical and cytogenetic follow-up of a patient with a ring chromosome 15. Our patient, a Caucasoid Asian woman, presented with short stature, microcephaly, minor dysmorphic features, hyperextensible knees, generalized hirsutism, cafe-au-lait and small hypochromic spots spread over her face and the front of her chest and abdomen, dorsolumbar scoliosis and mild intellectual disability. She was followed-up from the age of eight to 28 years. When she was 27 years old, she was reported by her mother to present with compulsive overeating and an aggressive mood when challenged. Karyotyping revealed that the majority of her cells harbored one normal chromosome and one ring chromosome. Silver staining revealed the presence of the nucleolar organizer region in the ring chromosome. Ring loss and/or secondary aberrations exhibited a slight increase over time, from 4.67% in 1989 to 7.67% in 2009, with the presence of two monocentric rings, cells with interlocked rings, a dicentric ring, and broken or open rings. A genome-wide array technique detected a 5.5Mb deletion in 15q26.2. CONCLUSIONS: We observed that some phenotypic alterations in our patient can be associated with gene loss and haploinsufficiency. Other features may be related to different factors, including ring instability and epigenetic factors.     

Profiles of Pioneer Women Scientists: Katherine Esau

“Profiles of Pioneer Women Scientists: Katherine Esau” tells the story of a noted botanist, plant anatomist, and electron microscopist who was born in the Russian Ukraine (in 1898), forced to flee the Bolshevik Revolution with her family—her father a mayor of Ekaterinoslav under the Czar—to Germany, where she received a bachelor’s degree in agriculture, education she put to good use in America. Beginning in a sugarbeet field in Salinas, California, she progressed through the doctoral degree at the University of California at Davis (UC Davis) and there began her exceptional research on plant anatomy and plant viral diseases. Her textbookPlant Anatomy became known among college students as “Aunt Kitty’s Bible,” and all of her textbooks have gone into second, and some to third, editions. Transferring to the University of California at Santa Barbara (with its new Chancellor, V. I. Cheadle) only two years before retirement, she blossomed anew, producing some of her best work there and obtaining National Science Foundation support for a new electron microscope and other research funds through her 89th year. Katherine Esau started accruing awards and honors at a relatively early age (Faculty Research Lecturer at age 50, election to the National Academy of Sciences at 59) and has never stopped (the President’s Medal of Science at age 91, a UC Santa Barbara building named for her at age 93). It has been her good fortune to live to enjoy these honors. The short autobiography of her father, a truly enterprising engineer, is included here, as are the recollections of Celeste Turner Wright. Celeste, who arrived at UC Davis the same year as Katherine Esau, became an acclaimed poet, and chaired the English Department for many years. She has added a lively reminiscence of the days she and Katherine spent at UC Davis. The introduction to the book by one of Esau’s former graduate students, Ray Franklin Evert, himself a renowned plant pathologist, provides a heartfelt tribute to his greatly admired professor.     

Anna Fraentzel Celli (1878-1958)

This paper provides a short history of Anna Fraentzel Celli life, from her arrival in Italy in 1898 to her death in 1958, reviewing available documents and written testimonies. Anna Fraentzel was born in Berlin in 1878, third of four daughters from a bourgeois family; her maternal grandfather, Luigi Traube, was a very well known physician, as well as her father Oscar, and she developed an early interest in medicine that she couldn't fulfill: actually after her father's death she was forced to shorten her education, she couldn't enter the medical school, as she would have liked to, and she attended the nursing school, instead, displaying a lot of good practical sense. As a nurse in Hamburg in 1896 she met Prof. Angelo Celli, who was there on a professional visit, and who assisted the young nurse in finding a job at the city hospital. She was much younger than him, who was already a middle aged respected scientist; anyhow, even after his departure, they kept in touch and eventually fell in love. They married in 1899 and she moved to Rome to work at the S. Spirito Hospital joining a brilliant group of physicians and researchers as Tommasi-Crudeli, Marchiafava, Bignami, Bastianelli, Dionisi, Grassi, and her husband Angelo. They had long been studying the mode of transmission of the malaria infection and in 1898 they had identified the mosquito Anopheles as the vector of the malaria parasite. She got enthusiastically involved both in the scientific work and in the antimalarial campaign which Celli promoted in the Agro Romano. The strong personality of Anna Celli, her active involvement in social problems, her passionate dedication to her work, her peculiar way of being feminist, expressed fully her commitment to the struggle against malaria and illiteracy in the Agro Romano and in the Paludi Pontine at the beginning of the twentieth century. She must be credited as a major force in the creation and functioning of the Peasant Schools, as well as in the organisation of the experimental antimalarial health clinics. After her husband's death in 1914 she continued as a promoter of the antimalarial campaign, co-operating with the Red Cross and other institutions. Moreover, she edited the scientific and historical papers which Angelo Celli had collected and written during his life. She was also a prolific writer and lecturer on these issues and gained widespread appreciation both in Italy and in Germany. Toward the end of her life she retired to a nursing home in Rome where she died almost alone in 1958.     

Delayed Antithyroid Drug-Induced Agranulocytosis

ObjectiveTo demonstrate that drug-induced agranulocytosis can occur after a very prolonged period of lowdose treatment with antithyroid medications.MethodsWe present the history and long-term follow-up of a patient with Graves disease, including clinical and laboratory findings, and provide a brief review of the related literature.ResultsA 53-year-old woman with a history of Graves disease presented with an absolute neutrophil count of zero, body temperature of 38.7°C, and symptoms of an upper respiratory tract infection. She had been treated continuously with low doses of antithyroid drugs for the preceding 11 years—propylthiouracil (100 to 150 mg daily) from February 1998 until July 2003 and methimazole (5 to 30 mg daily) from July 2003 until her presentation with severe neutropenia in March 2009. The daily dose of methimazole had been stable at 15 mg for 1 year before the current presentation. A thorough hematologic evaluation, including bone marrow biopsy, did not reveal an alternative cause for the agranulocytosis. After discontinuation of methimazole treatment and a short course of granulocyte colony-stimulating factor, she responded successfully with clinical improvement of her symptoms and resolved neutropenia.ConclusionAlthough this case is atypical, it reinforces the importance of remaining vigilant for signs of agranulocytosis throughout the course of treatment with antithyroid drugs, even at low doses and after years of continuous administration. (Endocr Pract. 2012;18:e69-e72)     

Immunologic abortion and its treatment by immunotherapy

Recurrent spontaneous abortions in most cases, can be explained by classical abnormalities; but for some cases without etiology and consequently without appropriate therapy until a few years ago, there is hope a successful treatment, thanks to recent advances. Contrary to what was suspected in the past, during pregnancy, the mother is immunologically competent against the paternal antigens of the fetus; this competence is necessary for her to respond to the trophoblast paternal antigen stimulations and develop her immune tolerance. If, because of insufficient stimulation, the woman does not succeed in producing this tolerance, it is now possible to help her by vaccination with paternal lymphocytes, before she becomes pregnant. Our results confirm these data: Again, we observe a greater frequency of HLA antigen sharing in couples with recurrent spontaneous abortions (RSAs), especially at the DR locus, Women with three or more RSAs, produce fewer antibodies against their husbands HLA antigens than regular normal fertile women (none out of the 50 cases studied), Anti-paternal antibodies the specificity of which cannot be determined at the moment, are shown by means of the microlymphocytotoxicity test at 37 degrees C carried out on the paternal B lymphocytes. They appear with the cure of the abortive illness after treatment by paternal lymphocyte injections. In the control women who did not receive any immunotherapy, those who developed anti-paternal antibodies spontaneously had a new normal pregnancy; 57.2 of those who did not produce any anti-paternal antibodies aborted once more.     

A case of sparganosis in the leg

The life-span of the sparganum in humans is not exactly known, but it may survive longer than 5 years in some patients. We experienced a case infected with a sparganum that is presumed to have lived for 20 years in a patient's leg. The patient was a 60-year-old woman, and she was admitted to a hospital due to ankle pain that was aggravated on dorsiflexion. She had noticed a mass on her knee some 20 years ago, but she received no medical management for it. The mass moved into the ankle joint 3 months before the current admission, and then the aforementioned symptoms appeared. A living sparganum was recovered by surgery, and the calcified tract near the knee was proved to be the pathway along which the larva had passed.     

Congenital iodide organification defect accompanied by a large nodular goiter: a case report

A girl who had a nontoxic diffuse goiter with a congenital organification defect of iodide was first seen at the age of 8 years, and since then she has been followed up for a long period. The nodularity of the thyroid gland had gradually progressed, because of intermittent failure of ingestion of thyroid hormone preparation which was followed by excess TSH secretion. 18 years later, a nodular goiter developed and the patient underwent subtotal thyroidectomy. In order to prevent the development of nodular change in the thyroid gland in this disorder, supplemental thyroid hormone medication should be started as soon as the diagnosis is confirmed, and the therapy should be carried out regularly.     

Reappearance of catatonia. A case report

We describe a patient who was ill for more than 15 years. She was treated predominantly as a neurological case because of multiple motor signs. The diagnosis of catatonia was considered at the time when she was hospitalized in a psychiatric hospital after a suicidal attempt. The "therapeutic blindness", which was obviously present during 15 years of her illness, is discussed: the ICD--10 is perhaps misleading regarding this diagnosis while it associates it too tightly only to schizophrenia.