Studies on Maltese Consanguinity

The possible genetic consequences of consanguinity have been known from ancient times, though different societies have held varying views. Some have encouraged consanguinity as desirable and the classic examples are the sister brother marriages of the Egyptian Pharaohs and also of the ancient Irish and Inca Royal families. Mother-son, father-daughter marriages are only said to occur occasionally among the primitive tribes such as the Minahassa of Celebes. In certain countries, consanguinous marriages are very common. The Japanese population of nearly 100 million has a remarkable degree of inbreeding, reaching a consanguinity rate of approximately 20% in many districts, while in Central and Southern India many populated areas are claimed to have a 60% consanguinity rate. Inbreeding is typically common in isolate population, and small island communities or `closed' populations are most frequently associated with this phenomenon.peer-reviewe

The xiphoid process in clinical medicine

Few references are to be found in medical literature to the association of the xiphoid process with disease. The case reports of two patients are here presented. The first patient is especially interesting as she throws light on a centuries old Maltese medical custom, which is dying out and is now practiced in the more isolated villages in the Maltese islands. These two patients illustrate first of all the ease with which the role of the xiphoid process in the production of symptoms may be completely overlooked. An erroneous diagnosis such as gastritis or even peptic ulcer can easily be made by a busy doctor if a patient indicates with one finger the localisation of pain in the upper epigastric region. A wrong diagnosis would be all the more possible if the patient is fully clothed when describing the symptoms at the beginning of the interview. In essence, this paper is intended to draw the attention of medical colleagues to the psychiatric, medical and even surgical aspects associated with the xiphoid process, whether because of the manipulative customs described above or through accidental self-manipulation or palpation.peer-reviewe

Clinical aspects of mediastinal emphysema (pneumomediastinum)

The etiology of spontaneous mediastinal emphysema is varied. Two illustrative cases are described, one related to bronchial asthma, and the other to scuba diving. The characteristic clinical findings, including subcutaneous emphysema and the abnormal auscultatory signs are discussed. These two cases illustrate two widely different etiologies of the syndrome. In both cases three classical signs associated with pneumomediastinum were elicited. A review of the literature of the subject discussed is also provided. Furthermore, the differential diagnosis, including the close resemblance of mediastinal emphysema to a left medial pneumothorax is considered. The diagnostic importance of a left lateral chest X-ray taken in expiration is stressed. Management should be conservative unless clinical deterioration continues.peer-reviewe

Wilson`s disease in Malta

Two cases of Wilson's disease occurring in the Maltese Islands are described and their response to Penicillamine therapy together with various aspects of Penicillamine therapy discussed. The first case is particularly interesting as dramatic clinical recovery occurred in spite of seven years of complete incapacity from the disease, implying that the neurological disturbance in Wilson's disease is always potentially reversible, however severe the degree and prolonged the duration of the initial incapacity before therapy is started. Perhaps one of the most striking clinical features in one of the patients described above is the fact that there had been seven years' total incapacity before treatment with Penicillamine was instituted.peer-reviewe

A method to aid the detection of slight splenomegaly : comparison with other recommended methods

The scope of this article is twofold. The first scope is to describe a simple and efficacious new manoeuvre aiding the detection of slight splenomegaly in "difficult" patients. The second is to draw the general reader's attention to the large number of variations in methods of abdominal relaxation and examination for the spleen favoured by various authorities on the subject. The vast majority of doctors have been taught only a few of the methods advocated in examination of the abdomen and in particular, the spleen. It may be easy therefore and unjustified for dogmatism to arise on the subject of methodology, though some methods may be better than others. The final point one wishes to emphasize here is that if one method has been unsuccessful in detecting splenomegaly, then other methods may be of profit.peer-reviewe

Tubo ovarian abscess as a complication of typhoid fever

This paper was read at a joint meeting of the Association of Surgeons and Physicians of Malta and the Fifth Army Surgeons Travelling Club at a meeting in Malta, in May 1968. Typhoid Fever has been notorious over the decades for the variety of complications that may arise from it, and numerous references are to be found in the medical literature devoted partly or exclusively to discussion of these complications. Abscess involvement of the ovaries or Fallopian tubes is one of the rarest of complications. A patient who developed this rare complication is here described and a short review of the literature made. Factors that may have contributed to this complication are furthermore discussed. A particular aspect of typhoid management which this case study illustrates is the relationship of relapse to dosage of Chloramphenicol. It is strongly believed that the complication of tubo-ovarian abscess in the present case would not have arisen had a fully adequate dose of Chloramphenicol been given at home from the start.peer-reviewe

Glomus jugulare tumours : their otological and neurological importance

Perusal of the literature pertaining to glomus jugulare tumours reveals the long interval which usually passes between the onset of symptoms, caused by these slowly growing tumours, and the time of diagnosis. Two case studies illustrating the main different clinical manifestations of these tumours are described. The tumours, histologically, consist of clumps of large polyhedral epithelial cells. The main presenting symptoms may be either otological or neurological, or a mixture of both. This depends on the exact site of origin of the tumour and also on the, direction in which it invades surrounding structures. Neurological manifestations though important develop, as a rule, after the start of otological symptoms. Another peculiar feature of these tumours is their increased incidence in females. The symptoms caused by these tumours have been mistaken for those arising from chronic otitis media, chronic secretory otitis media, acute suppurative otitis media and granulomata of the external auditory canal. Treatment is either surgical or by radio-therapeutic means or by a combination of both, radiotherapy preceeding surgery to reduce the vascularity of the growth. Another method of treatment which may prove to be a useful adjunct is cryosurgery.peer-reviewe

Spontaneous remission in the ahumada : del castillo syndrome

The association of spontaneous galactorrhea with primary or secondary amenorrhea is a striking clinical picture and has increasingly engaged the attention of clinicians as, during the past two decades, numerous and diverse etiological factors have been incriminated. Much stress has been laid in the past on the persistence and intractability of symptoms in patients belonging to the group originally described by Ahumada and del Castillo (1932). A case study of a thirty-year-old nulliparous woman, who gave a history of six months amenorrhea and had noticed spontaneous ejection of milky fluid from the breasts in the latter three months is reported and discussed. The patient's clinical picture coincides with the group often known as belonging to the Ahumada-del Castillo. In this case the patient stopped lactating spontaneously shortly after her acute renal illness. One can rule out that this was solely due to the stopping of hypotensive drugs as the galactorrhea and amenorrhea antedated by months the use of any drug. It is the objective of this article to indicate that the syndrome of idiopathic galactorrhea and amenorrhea need not necessarily have a poor therapeutic prognosis but may show spontaneous remission.peer-reviewe

Generalized gangliosidosis in Malta

The purpose of this paper is to describe the clinical features of four cases of generalized gangliosidosis, two of which in siblings. In two of the cases, and in one of the siblings, B-galactosidase deficiency was demonstrated in blood and urine samples. The point that emerges from these cases is the realization that the clinical distinction between the various ganglioside lipidoses is now no 'longer possible, even in the clinically 'typical' case the resemblance to one or other of the classical Tay-Sachs or Niemann Pick is meaningless without the aid of specialized enzymatic tests. Moreover, the dramatic finding of the cherry-red spots in the retina is now no longer pathognomonic of classical Tay-Sachs disease, as was formerly widely held by clinicians. In every case the exact metabolic defect should be pin-pointed before a definite diagnosis can be made. It therefore becomes mandatory to investigate all patients in this group by special chemical techniques.peer-reviewe

Etiological and epidemiological factors in facial palsy

The present study is an analysis of 243 patients with facial palsy referred to St. Luke's Hospital Malta during the six year period extending from October 1965 to October 1971. The vast majority of the patients' records collected were from the Medical, Pediatric, Orthopedic, E.N.T. and Physiotherapy Departments. The records were analysed with special reference to: onset of symptoms, age, sex, side of palsy, date of referral to hospital, town of origin and referring doctor. A history of hypertension and diabetes mellitus, previous occurrences of facial palsy and any other relevant illness were also recorded. The sex distribution was also compared with that in other series because of the recent Egyptian reports of facial palsy developing more often in females. The age groups of the Maltese patients were also analysed and compared with those in some other studies. Following this study, it was concluded that probably there were no significant geographical variations. In the older age groups, however, atherosclerosis, diabetes and hypertension are postulated as aggravating factors. Underlying diabetes and hypertension should, therefore, be excluded in patients with Bell's Palsy, all the more so, because of the increased risks, if such patients are treated with steroids.peer-reviewe