Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia. Twenty distinct mutations were found, 5 of which were previously reported. Nine of the 15 new mutations were missense mutations (T117N, A159T, R229S, A331T, H364R, D389G, R433H, N461I, and C472S). The others were 2 nonsense mutations (L-12X and E274X), one single nucleotide deletion (1256delC), 2 mutations affecting splicing (298-2A>G, 997+2T>A), and a mutation in the major transcription start site (-195C>T). Hum Mutat 15:293, 2000.

[Value of bony resection-reconstruction by avascular autologous fibular graft in the tropical milieu. Treatment of a giant cavernous hemangioma of the humerus]. / Intérêt de la résection-reconstruction osseuse par péroné autologue non vascularisé en milieu tropical. A propos du traitement d'un hémangiome caverneux géant de l'humerus.

In a poorly equipped tropical setting, limb amputation is often considered as the only therapeutic solution for malignant tumors or large benign tumors. However it can be avoided by bone replacement using an avascular autologous fibular graft. This method was used in a young girl from Tchad presenting a giant cavernous hemangioma of the humerus. This technique allowed salvage of the extremity but resulted inevitably in radial paralysis. The time needed for bone healing was normal. This technique required minimum facilities and was perfectly biocompatible. It can be used in tropical settings where allograft techniques and prosthetic replacement are not available.

[Post-traumatic osteolysis of the distal end of the clavicle. Contribution of MRI]. / Ostéolyse post-traumatique de l'extrémité distale de la clavicule. Apport de L'RM.

The authors describe a case of post-traumatic osteolysis of the clavicle. The clinical and roentgenographic aspects are well known. But regarding the lytic X ray aspect, another diagnosis, particularly a tumor may be evoked. Scintigraphy and computed tomograms can take a part in the diagnosis. But scanograms are uneasy to do in this region. The MRI allows to delimit the lesion, and the hypointense signal in T1 and T2 weighted sequences directs to a fibrosis in the area between the end of the clavicle and the acromion. In this case report, the relation between the MRI findings and the pathological aspects was good.

[Fractures of the capitellum humeri with late discovery]. / Les fractures du capitellum huméral de découverte tardive.

Four patients with an old fracture of the capitellum humeri were treated by simple excision of the fragment. The results were good in two patients and fair in the two others. The event of a painless period in two cases raised the problem of the limits with the osteochondritis dissecans.

[Extra-abdominal desmoid fibroma and pulmonary metastases. (New Caledonia)]. / Fibrome desmoïde extra-abdominal et métastases pulmonaires. (La Nouvelle-Calédonie).

A 22 years old Melanesian patient had a tumor in the anterior and external side of the left leg. Three times, this tumor had a surgical treatment, by resection, then an amputation of the leg. Always, its histological aspect was agreeing with a desmoid fibroma. After an evolution of 23 months time, metastases appeared in the lungs. Most of the authors don't agree the existence of metastases in these tumors. Four observations were reported in the literature, including one in 1989. They emphasize the difficulties of the histological diagnosis of these tumors. The metastases seems to be an argument in the evolution, which incites to modify the initial diagnosis as a fibrosarcoma in spite of the lack of obvious histological malignancy.

[Surgical treatment of neglected elbow dislocations. Report of 81 cases]. / Traitement chirurgical des luxations négligées du coude. A propos de 81 observations.

The neglected dislocations of the elbow are rare in Europe. In Africa, amongst 81 operated cases, during 10 years, 52 were seen again, with a follow-up between 4 months and 7 years. From this group, the authors are trying to define the place of open reductions and resections of the lower end of humerus. The surgical indications were set up in accordance with functional discomfort. The results of open reductions and those of resections were satisfactory, respectively in 72 per cent and 74 per cent of the cases in flexion-extension movement, and 31 per cent and 41 per cent in the pronosupination. The open reduction remains often possible, even after significant delay. The resections are more mutilating, and they involve risks of laxity. They should be reserved to immediate and late failures. The place of the prosthetic surgery in this ailment is not yet defined.

[Resection of the distal part of the humerus in neglected elbow dislocations. Apropos of 23 case reports]. / La résection de la palette humérale dans les luxations négligées du coude. A propos de 23 observations.

The authors describe the results obtained in 23 resections of the lower extremity of the humerus in neglected elbow dislocation examined after periods of between 7 years to 4 months. Results on elbow mobility are satisfactory in more than 70% of the cases, taking into consideration initial disability. But the cost of such intervention to be paid is often a laxity of the elbow and diminished strength. Indications are inveterate disabling dislocation, in case of immediate or late failure of open reductions.

[Open reduction of the elbow. Apropos of 29 neglected dislocations]. / La réduction à foyer ouvert du coude. A propos de 29 luxations négligées.

The authors describe results and technical difficulties faced in a series of 29 elbow dislocations using the open technic, then observed over a period between 5 years and 4 months. Results obtained are satisfactory, taking into consideration the primary stiffness. Results on stability are better than those obtained by resection of the lower part of the humerus. Dislocations by the open technic have to be envisaged first in neglected luxations. Indications are limited to patients crippled and limited to non-functional position.

[Cutaneous malignant melanomas in New Caledonia. Study of the Cancer Registry (1977-1987)]. / Les mélanomes malins cutanés en Nouvelle-Calédonie. Etude du Registre des Cancers (1977-1987).

Investigation of cancer registration files in New Caledonia over a period of 11 years (1977-1987) draws the following conclusions: --The uncorrected incidence rate of cutaneous malignant melanoma is 3.63/100,000 inhabitants/year, for all ethnic groups together. --The incidence rate in the "non-European" population is 0.6/100,000 inhabitants/year. This low incidence and the anatomo-clinical manifestations observed (lentiginous melanoma of extremities) are common in coloured people. --The incidence rate in the "European" population is 8.75/100,000 inhabitants/year is noticeably higher than the incidence in the metropolitan population. Such conclusions are in accordance with the admitted data regarding epidemiology of cutaneous melanoma in high insolation countries. Cumulated incidence rate and topography of lesions are similar in this series whatever the sex.

[Chondrosarcoma with a myxoid component. Apropos of a "giant" tumor recurrence]. / Chondrosarcome à composante myxoïde. A propos d'une récidive tumorale "geante".

Reporting on a giant tumorous recurrence of a chondrosarcoma with a myxoid component, without perceptible locoregional or general extension, the authors recall the possible long-term evolution of this type of tumor. They underline the difficulty of anatomopathologic diagnosis of tumors with cartilaginous structure, and the necessity for frequent monitoring after exeresis.

[Blount's disease. Apropos of a case in a melanesian child]. / La maladie de Blount. A propos d'un cas chez un enfant mélanésien.

Reporting on a case of Blount's disease in a melanesian child in New Caledonia, the authors review the up-to-date knowledge on such an uncommon chondrodystrophy, striking black and Scandinavian children preferentially.

[A makeshift miniature fracture-fixation device: the "domino" apparatus]. / Un minifixateur "de fortune": le montage "domino".

The fixation of an external synthetic apparatus on fingers or metacarpals is often relevant to an emergency. In such a condition, particularly overseas, the surgeon does not get all the time and adequate apparatus. So, several expedient measures may be utilized. The authors describe a makeshift apparatus, simple and cheap, giving satisfactory stability when more sophisticated apparatus is not available.

[Cancer of the penis in Cambodia]. / Cancer de la verge au Cambodge.

The prevalence of penis cancer in Cambodia is comparable with some Far-East and Latino-American countries. Circumcision performed as a religious observance among Jews or undergone as a regular practice among older Moslems children (the Islam Kmers in Cambodia) might provide an indirect protection against this kind of cancer. It indeed helps in ensuring proper personnal hygiene and in improving the detection, the treatment and the aftercare of all the mild lesions which possibly can pave the way to cancer. Out of of 253 observed cases recorded during a 10 years period (from 1960 to 1970), 164 were treated and followed up by the same surgical team from 1964 to 1970. They stress on those etiopathogenic factors and make possible a description of the reported "anatomoclinical" forms. The use of radiumtherapy either by contact or by means of needles is quite effective; however, when corpora cavernosa are involved, it will be often necessary to perform either a partial amputation or to an emasculation in case of entirely overspreading lesions. As metastases are of rare occurence, it is regarded as a "mild cancer"; however the sequelae due to the treatment are far from small importance. Through better personnal hygiene, detection, treatment, and surveillance of inflammations and benign tumors, with the renforcement of circumcision as a regular practice for every case of phimosis or chronic lesions, an effective prevention of this kind of cancer will expectedly be carried out in Cambodia and its prevalence will be reduced to a rate similar to that in European countries.

[Abdomen perforating wounds. Study of 61 cases (author's transl)]. / Les plaies penetrantes de l'abdomen. Etude de 61 cas.

A recent increase in the frequency of abdomen perforating wounds has been observed in Ivory Coast, related wih social condition changes. The authors study 61 cases, recorded in 10 years. Most of the cases (62,3 p. 100) are caused by side-arms and 14,8 p. 100 by fire-arms. If 59 p. 100 of the cases resort to criminal assault, 5 p. 100 were caused by suicide attempt; the other cases were consequence of various accidents. The surgical procedures are described. Death rate, with 4 cases, was only of 6,5 p. 100.

[Hepatic amebiasis: recent aspects. One hundred and sixty one case reports (author's transl)]. / L'amibiase hépatique: aspects actuels. Cent soixante et une observations.

The authors describe their experience of 16l patients (151 adults and 10 children) with hepatic amebiasis. Diagnosis and treatment were carried out at the Treichville Hospital University Center in Abidjan over a three-year period, from September 1976 to November 1979. Diagnosis was established without question in all cases. The indirect immunofluorescence reaction was particularly helpful. All patients were treated by metronidazole or it's derivatives. Semiology, course and therapy are described in detail. A comparison is made with cases published in the literature during the last 15 years. Most of the classical pictures were encountered in this study. The clinical picture may be misleading, for instance when it is suggestive of cancer or when jaundice is present. Immunology is particularly interesting in atypical forms. The authors insist on the unvarying and high morbidity due to this disease which accounts for 2% of all hospitalizations. Prognosis has improved, the mortality rate among adults was 4.5%. A fall in the number of surgical procedures was recorded. Only 10% of the patients underwent surgery. The therapeutic principles advocated by the authors are described. They can be used even when echotomography is not available, as is usually the case in regions where the disease is endemic.