Shortcomings of chest radiography in detecting Pneumocystis carinii pneumonia

OBJECTIVE: Following the chance observation of congenital adrenal hyperplasia in a patient with Turner's syndrome we decided to evaluate the incidence of 21-hydroxylase deficiency (21-OHD) in patients with Turner's syndrome and in their relatives. SUBJECTS: Fifty-two patients with Turner's syndrome (mean age +/- SD 14.7 +/- 5.6 years) and 26 relatives were studied. MEASUREMENTS: 17-Hydroxyprogesterone (17-OHP) serum levels before and after i.m. administration of 0.25 mg of ACTH(1-24) were evaluated in patients with Turner's syndrome and relatives. In Turner patients basal testosterone and dehydroepiandrosterone concentrations were determined. The results of ACTH tests were analysed according to HLA class I and II alleles of subjects. RESULTS: The baseline 17-OHP was in the range of the classical form of 21-OHD in one Turner patient, who had severe clitoral enlargement since birth. In 11 patients the stimulated 17-OHP serum level was higher than in normal controls and similar to that found in 21-OHD heterozygous subjects. Clitoral enlargement was significantly more frequent in patients with high stimulated 17-OHP levels (P < 0.001). The frequency of heterozygous-type responses was higher in Turner subjects (1:4.6) than in the Italian population (1:47 for the classic form and 1:9.5 for the non-classic form of the disease). In our patients the frequencies of HLA antigens and haplotypes, usually associated with 21-OHD, were different compared to the controls. HLA-B8, which is negatively associated to 21-OHD, was less frequent in Turner patients than in controls and absent in those with an elevated 17-OHP level. HLA-B14, B22 and B35 were more frequent, though not significantly so, in Turner patients than in controls and even more so in the group with an elevated 17-OHP level. The same investigations performed in 26 relatives of the Turner patients showed a high frequency of carriers of 21-OHD and three subjects with the cryptic form of the disease. CONCLUSIONS: Although in the literature there are only two reports of the association of Turner's syndrome and 21-OHD, on the basis of our experience this association was more frequent, in the Italian population. Since some of the typical signs of 21-OHD (short final stature, varying degrees of virilization, menstrual irregularities, amenorrhoea, infertility) in patients with Turner's syndrome could also be attributed to the chromosomal abnormality, it is therefore more difficult to diagnose 21-OHD in Turner subjects. Adrenal function should be assessed, at least in the presence of clitoral enlargement, in patients with Turner's syndrome, particularly if their karyotype does not contain a Y chromosome. The hypothesis of the presence of cryptic Y chromosome material in these patients should also be considered.     

Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS)

OBJECTIVE: There is a high prevalence of congenital heart defects in patients with Turner's syndrome. Few studies have reported echocardiographic data in unselected patients according to the different chromosomal patterns. The aim of our study was to evaluate a large series of patients with Turner's syndrome, comparing these data with those of the general population. METHODS: Five hundred ninety-four patients with Turner's syndrome, aged 1 month to 24 years, in the Italian Study Group for Turner Syndrome underwent full cardiologic evaluation. Karyotype distribution was: 45,X (54%), X-mosaicism (13%), and X-structural abnormalities (33%). RESULTS: The prevalence of cardiac malformations was 23%. Bicuspid aortic valve (12.5%), aortic coarctation (6.9%), and aortic valve disease (3.2%) were the most prevalent malformations. In comparison with the general population, partial anomalous pulmonary venous drainage had the highest relative risk. A correlation was found between type of congenital heart defect and karyotype. The patients with 45,X karyotype had the greatest prevalence of partial anomalous pulmonary venous drainage and aortic coarctation, whereas bicuspid aortic valve and aortic valve disease were more common in the patients with X-structural abnormalities. The patients with severe dysmorphic signs showed a significantly higher relative risk of cardiac malformations. CONCLUSION: X-linked factors may be involved in determining cardiac defects in Turner's syndrome.     

Patients with Turner's syndrome may have an inherent endometrial abnormality affecting receptivity in oocyte donation

OBJECTIVE: To evaluate whether endometrial receptivity is compromised in patients with premature ovarian failure (POF) due to Turner's syndrome who undergo oocyte donation. DESIGN: Retrospective analysis. SETTING: In vitro fertilization-ET units, anonymous oocyte donation program. PATIENTS: The study included 53 patients with POF who underwent oocyte donation. These included 7 patients with Turner's syndrome (45,X) who underwent 22 ET cycles, 15 women with Turner variants (mosaics, deletions, or isochromosomes) who underwent 36 ET cycles, and 31 other patients with POF and a normal karyotype who underwent 69 oocyte donation cycles. INTERVENTION: All patients on standby for donation were treated with E2 valerate 6 mg/d until oocytes became available; then P 100 mg/d was added. Oocyte donors were healthy women < 34 years who underwent IVF themselves. MAIN OUTCOME MEASURES: Clinical pregnancy rates (PRs), biochemical pregnancies, early abortions, and delivery rates were evaluated. RESULTS: Turner's syndrome patients had a significantly higher rate of biochemical pregnancies (22.7% versus 4.3%), a lower clinical PR (22.7% versus 33.3%), a significantly higher rate of early abortions (60% versus 8.7%), and a significantly lower rate of deliveries per pregnancy (20.0% versus 73.1%) compared with non-Turner patients. CONCLUSIONS: Patients with a complete or partial deficiency of an X chromosome have reduced PRs and an increase in early implantation failure after oocyte donation. This may indicate an inherent endometrial abnormality, possibly associated with a deficiency of X-linked genes regulating endometrial receptivity.     

Idiopathic granulomatous hypophysitis: clinical and imaging features

AIMS/BACKGROUND: The syndrome of ocular histoplasmosis is usually prefaced by "presumed' as the aetiology is not yet clear. The aim of this study was to evaluate the clinical features of a similar ocular syndrome in the Netherlands where the fungus Histoplasma capsulatum is not endemic. METHODS: A retrospective multicentre study in which all patients were included who were diagnosed with a syndrome similar to presumed ocular histoplasmosis and in whom both fluorescein angiogram and all complete patient data were available. Fluorescein angiograms were examined by three authors in a masked fashion. Eighty one patients were selected who fulfilled the ophthalmic criteria for presumed ocular histoplasmosis. Fifty one patients showed the classic clinical picture, while 30 patients had an incomplete form as they did not show numerous histospots. RESULTS: No major difference in clinical characteristics could be identified when comparing the group of patients with the classic syndrome with the one with the incomplete syndrome. Final visual outcome of patients with macular subretinal neovascularisation after laser treatment was better when compared with untreated patients (p < 0.01). CONCLUSIONS: Since the fungus Histoplasma capsulatum is absent in the Netherlands, other aetiological agents must have led to this clinical entity similar to the presumed ocular histoplasmosis syndrome seen in the USA.     

Prenatal and postnatal prevalence of Turner syndrome. A registry-based study

The prevalence of Turner's syndrome in Denmark 1970-1993 was studied and the validity of prenatal diagnosis was assessed. The study was conducted on prenatal and postnatal Turner's syndrome in the Danish Cytogenetic Central Register. All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) at the Danish Cytogenetic Central Register were included. The main outcome measures were prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. The results showed that among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 of the children were live born. Thirteen of the liveborn children were karyotyped postnatally, and the diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives a tentative predictive value of amniocentesis in the diagnosis of Turner's syndrome between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. In conclusion, a discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges the specificity of prenatal examination in diagnosing Turner's syndrome.     

Prader-Willi syndrome

BACKGROUND: First described in 1956, Prader-Willi syndrome is a neurogenetic condition characterized by infantile hypotonia, hypogonadism and obesity. Mental deficiency, behavioral abnormalities, and obvious dysmorphic features are frequently found as well. It is a relatively common condition, with an incidence estimated to be between 1 in 10,000 to 25,000 live births. Few studies have been published that investigated the ocular defects associated with this syndrome. METHODS: This case report discusses the systemic and oculo-visual abnormalities of a 34-year-old white male enrolled in the Easter Seal Society of Metropolitan Chicago/Illinois College of Optometry Eye Care and Treatment Program. Examination techniques commonly used for patients with cognitive/developmental dysfunctions were utilized. RESULTS: Our findings include ocular hypopigmentation with reduced visual acuity, a myopic refractive error, exotropia, corneal abnormalities, glaucoma, and other ocular and systemic health abnormalities. CONCLUSIONS: Reported ocular findings for patients with Prader-Willi syndrome include iris hypopigmentation with depressed visual acuity, moderate to high refractive error, and strabismus. Individual patients with this syndrome have also been reported with cataracts, congenital ocular fibrosis syndrome, diabetic retinopathy, and congenital ectropion uveal. The numerous ocular, systemic, and functional abnormalities of patients with Prader-Willi syndrome make it mandatory that all routinely receive primary optometric vision care.     

Regulation of human mast cell and basophil function by cAMP

BACKGROUND: Ischemic optic neuropathy (ION) is an infarction of the anterior or, less frequently, posterior part of the optic nerve, usually due to a disease of small arteries supplying the optic nerve. Carotid stenosis or occlusions are rare causes, and among them, carotid dissections have been so far reported in only 5 cases. METHODS: We describe 4 patients with ION (2 anterior and 2 posterior) due to internal carotid artery dissection of a consecutive series of 110 patients with internal carotid artery dissection (3.6%). RESULTS: None of the patients had signs of central retinal artery occlusion or ischemic ocular syndrome. Ischemic optic neuropathy occurred after a mean of 5.3 days (range, 3-8 days) following the first symptom, which was headache in 1 patient, transient monocular blindness in 2, and hemispheric transient ischemic attack in 1. One patient had associated Homer syndrome, and 2 had severe ipsilateral headache and orbital pain. None of the patients developed a cerebral infarction. These features differ from those observed in "classic" nonarteritic anterior ION and might therefore point to carotid dissection. CONCLUSION: Ischemic optic neuropathy may occur as an early sign of carotid dissection: young age, previous transient monocular blindness, an association with pain, Horner syndrome, or hemispheric transient ischemic attacks are suggestive of this cause and should prompt confirmatory investigations.     

DNA modifications by the mutagen glyoxal: adduction to G and C, deamination of C and GC and GA cross-linking

OBJECTIVE: This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear nevus sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, seizures, and mental retardation, and often accompanied by ocular anomalies. DESIGN: Small observational case series. METHODS: A retrospective review of the clinical and histopathologic records of four patients. RESULTS: Each of four patients had complex limbal choristomas in the setting of clinical and histopathologic LNSS. The limbal choristomas were multiple in three patients and bilateral in two patients. Most choristomas involved the superotemporal limbus (6 of 10), although nasal (3 of 10) and inferior (1 of 10) limbal tumors also were present. Three patients had significant corneal astigmatism or involvement of the central cornea requiring surgical removal of their choristomas, one accompanied by a lamellar keratoplasty and another accompanied by two consecutive penetrating keratoplasties. Each graft eventually vascularized, reducing vision. One patient's vision was limited by amblyopia and another by occipital cortical dysgenesis with visual impairment. Histopathologic examination of the excised choristomas showed foci of lacrimal gland (3 of 4 patients), adipose tissue (3 of 4), neural tissue (1 of 4), cartilage (1 of 4), lymphoid follicles (1 of 4), skin adnexal tissue (1 of 4), and smooth muscle (1 of 4). Other associated ocular findings included an eyelid mass (1 of 4), colobomas of the eyelid (3 of 4), colobomas of the choroid and retina (2 of 4), nonparalytic strabismus (2 of 4), scleral ectasia (1 of 4), partial oculomotor palsy with ptosis and anisocoria (1 of 4), microphthalmia (1 of 4), hypertelorism (1 of 4), and cortical visual impairment (1 of 4). CONCLUSIONS: Complex limbal choristomas, although rare, can occur in the setting of LNSS and can be associated with multiple ocular and systemic abnormalities. Visual prognosis appears poor in most cases despite aggressive management.     

Biological nature of feline immunodeficiency virus

Genetic factors were recognized as possible predisposing factors in the etiopathogenesis of prepubertal periodontitis (PP). Consequently, the present work was carried out to determine the possible mode of inheritance and if there were any associated chromosomal aberrations in cases with PP. The study included 3 families with probands manifesting PP (the families included 18 individuals). Pedigree analysis was carried out as well as chromosomal analysis. The results pointed out to the possibility of new mutations arising due to various environmental factors (including the use of pesticides and their handling), in addition to a possible autosomal recessive inheritance. Chromosomal analysis showed no association between a certain chromosomal aberration and PP. An interesting finding was that a girl proband proved to be Xo female, i.e. a case of Turner's syndrome. This could be considered the first report of Turner's syndrome with PP.     

Alstr?m syndrome. Report of 22 cases and literature review

OBJECTIVE: The authors report 22 cases of Alstr?m syndrome (AS), which is the largest series to date. Only 37 cases have been reported in the world literature since 1959. The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. Their aim is to clarify the AS phenotype and to increase awareness of the early features. DESIGN: A retrospective case series. PARTICIPANTS: All patients (22) with a diagnosis of AS admitted to the authors' hospital in the past 10 years were included in this review. INTERVENTION: This is principally a review of ocular features, but other features are recorded and discussed. MAIN OUTCOME MEASURES: Features noted included age at onset of visual symptoms, presence of photophobia, visual acuity, and electroretinogram findings. Nonocular features recorded included cardiac status, weight and height, hearing, and presence of diabetes mellitus. RESULTS: Cardiomyopathy presenting in infancy has only been recognized recently to be a feature of AS. Of the authors' cases, 18 of 22 had infantile cardiomyopathy. In the authors' tertiary referral institution, there is an ascertainment bias toward younger patients and especially those with pathology that is other than ocular pathology. In addition, AS is difficult to recognize in childhood without the development of infantile cardiomyopathy. Alstr?m syndrome often is not recognized until diabetes mellitus develops in the second or third decade. Initially, a diagnosis of cone-rod dystrophy, achromatopsia, Leber's congenital amaurosis, or Bardet-Biedl syndrome may be made. In AS, there is a severe infantile retinal dystrophy. The electroretinogram is absent or attenuated with better preserved rod than cone function. The retinal dystrophy is progressive with the patient's visual acuity of 6/60 or less by 10 years of age and no light perception by 20 years of age. CONCLUSIONS: A diagnosis of AS should be considered in infantile cone and rod retinal dystrophy, particularly if the weight is above the 90th percentile (16 of 18 cases) or if there is an infantile cardiomyopathy (18 of 22 cases).     

M?bius' syndrome: features and etiology

PURPOSE: To review the clinical features and possible aetiology of all cases of M?bius' syndrome presented at the Royal Alexandra Hospital for Children in Sydney, Australia, from 1963 through 1995. METHODS: All charts of patients suffering from M?bius' syndrome were reviewed, and each patient was thoroughly assessed by a geneticist and a pediatric ophthalmologist. RESULTS: Patterns of systemic and ocular clinical features became evident. Of 23 patients in the series, 10 (43%) had a history significant events in utero. CONCLUSIONS: All patients suffering from M?bius' syndrome require thorough assessment by a multidisciplinary team including a geneticist or pediatrician and a pediatric ophthalmologist. Significant vascular events of pregnancy may explain some cases of fetal vascular disruption to the brainstem.     

Aetiology of keratoconus

Keratoconus has a common association with atopic conditions. Most keratoconus patients rub their eyes excessively. Eye-rubbing is considered the dominant aetiological factor in two-thirds of patients with keratoconus who progress to contact lens wear. A classification of keratoconus based on the dominant aetiological factors is proposed. No significant psychoneurotic factor was found in the keratoconus patients compared with patients in the control group.     

The Melkersson Rosenthal syndrome--a differential diagnosis of facial sarcoidosis

Patients with Turner's syndrome present a multiplicity of cardiovascular and airway abnormalities. We describe a case of Turner's syndrome with pericardial effusion who experienced an inadvertent endobronchial intubation due to displacement of the endotracheal tube immediately after the pericardial drainage. A sudden increase of airway pressure and decrease of oxygen saturation in the presence of breathing sound audible via the chest piece placed on the left hemithorax first misled us to call our attention to sputum impaction. No sputum was obtainable from airway suction. Inadvertent bronchial intubation was highly suspected at the post-anesthesia room when a decrease of right side breathing sound was noted together with a progressive fall of oxygen saturation. Emergent chest x-ray confirmed the diagnosis. It was thought that the mishap took place early in the act of or following the pericardial drainage. Our case serves as evidence once again to emphasize the possibility of endobronchial intubation due to displacement of endotracheal tube during anesthesia and the importance of monitoring to guard against inadvertent bronchial intubation, particularly in patients with associated problems such as Turner's syndrome with huge pericardial effusion.     

Brain HMPAO-SPECT and ocular microangiopathic syndrome in HIV-1-infected patients

OBJECTIVE: The pathogenesis of neurologic and neuropsychologic dysfunction in HIV-1 infection is unclear. The purpose of the study was to determine an association between cerebral perfusion and HIV-1-related ocular microangiopathic syndrome. METHODS: We studied 28 HIV-1-infected patients, seven of whom presented with asymptomatic HIV infection, nine with lymphadenopathy syndrome or AIDS-related complex, and 12 with AIDS. Cerebral perfusion was semi-quantitatively measured by single photon emission computed tomography of the brain using technetium-99 hexamethyl-propylenamine oxime (HMPAO-SPECT). The conjunctival manifestation of HIV-1-related microangiopathic syndrome was measured by a rating scale determining blood-flow sludging and, retinal cotton-wool spots were counted. CD4 count, neopterin, beta 2-microglobulin (beta 2M), haemoglobin, and age were determined as putative confounding variables. RESULTS: Mean conjunctival sludge in patients with normal HMPAO-SPECT findings was 1.3 +/- 0.5 (mean +/- s.e.m.); no cotton-wool spots were present. In patients with slightly impaired HMPAO-SPECT, it was 2.1 +/- 0.6 and mean cotton-wool spot count was 1.1 +/- 0.4. In patients with severely impaired HMPAO-SPECT, mean conjunctival sludge was 4.5 +/- 0.3 and mean cotton-wool spot count was 4.9 +/- 1.1 HMPAO-SPECT findings were closely associated with conjunctival sludge (r = 0.72; P < 0.001) and number of cotton-wool spots (r = 0.78; P < 0.001), whereas only a slight association with staging of HIV disease was found (P = 0.052). Analysis of covariance controlling for CD4 count neopterin, beta 2M, age, and haemoglobin demonstrated a significant difference between the three HMPAO-SPECT groups for both the number of cotton-wool spots (P < 0.001) and the conjunctival sludge rating (P < 0.001). CONCLUSION: There was a close association between severity of HIV-1-related ocular microangiopathic syndrome and severity of cerebral hypoperfusion. Microvascular alterations might contribute to the pathogenesis of neurological and neuropsychological symptoms in patients with HIV-1 disease. Furthermore, the conjunctival sludge rating and the number of cotton-wool spots might be appropriate indicators for severity of microvascular changes of the central nervous system [corrected].     

Trousseau's syndrome in association with ovarian carcinoma

BACKGROUND: The association of neoplastic disease and thromboembolic disorders was first recognized by Trousseau in 1865. Abnormalities of blood coagulation tests have been reported in the majority of patients with cancer, including ovarian carcinoma. However, Trousseau's syndrome has rarely been reported in women with ovarian carcinoma. METHODS: A literature search for cases of Trousseau's syndrome in association with ovarian carcinoma was performed using the MEDLINE database. Case notes of patients with ovarian carcinoma treated at St. George's Hospital were reviewed and cases of Trousseau's syndrome identified. RESULTS: We report a series of 4 cases of Trousseau's syndrome in association with ovarian carcinoma occurring over a 3- to 4-year period, and highlight the particular difficulties associated with the management of these thromboembolic effects. CONCLUSIONS: Trousseau's syndrome can impair quality of life in patients with advanced ovarian carcinoma and enhanced anticoagulation regimens may be required for effective palliation.     

Soft-tissue sarcomas in the adult: news and trends]

The mechanism of growth retardation in Turner's syndrome has not been resolved. It is often referred to as a bone dysplasia, although endocrine derangement has not been ruled out. The present study was undertaken to evaluate the maturation of individual bones of the hand and wrist in girls with Turner's syndrome and thereby obtain information which may aid in elaborating the possible mechanism of the growth retardation in girls with Turner's syndrome. Hand and wrist films of 24 girls with Turner's syndrome, 11 normal girls with short stature and 23 normal controls were evaluated, using the references of Greulich and Pyle. Each bone or epiphysis was given an individual 'age'. During childhood the Turner patients showed the greatest delay in bone age of the phalangeal bones while the least delayed were the radius and ulna (long bones) and metacarpals. The carpal bones showed intermediate retardation. This pattern and extent of maturational retardation was clearly different from that of the short stature normal group, who showed uniform retardation of all bones. During adolescence, the phalangeal bones were further retarded and the carpal bones showed a moderate retardation. The unique profile of bone maturation in Turner's syndrome suggests an insult to chondroplasia, which may be related to estrogen deficiency or to an as yet undetermined endocrine or paracrine derangement.     

A comprehensive approach to LASIK

Candidates for LASIK procedures should have a stable refraction for at least 12 months. The three main contraindications for LASIK include patients with keratoconus or autoimmune disease and active corneal or ocular disease. The proper laser room environment is critical for optimal laser performance. The temperature should be maintained between 18 degrees C and 24 degrees C, and the humidity should be kept below 50%.     

Turner's syndrome with XO/XXp- karyotype: a case report

An unusual case of Turner's syndrome is presented. The case highlights the importance of chromosome analysis in patients presenting with primary amenorrhoea. This patient demonstrates the effects of mosaicism and the importance of the long and short arms of the X chromosome. Deletion of the short arm has only been reported in 2 previous cases of Turner's syndrome. The absence of the short arm is believed to be responsible for the shortness in stature in these patients.